Mutations Mapped and Identified Based on Phenotype
| Gene | Allele | Chr | Chr Loc | Mode of Inheritance | Phenotypic Category |
|---|---|---|---|---|---|
| Unc93b1 | 3d | 19 | 3.935-3.949 Mb (+) | Autosomal Recessive | decreased response to injected CpG DNA TLR signaling defect- type I IFN production by macrophages TLR signaling defect- TNF production by macrophages MCMV susceptibility immune system |
| Rorb | 4-limb clasper | 19 | 19.005-19.186 Mb (-) | Autosomal Recessive | nervous system behavior/neurological |
| Edaradd | achtung | 13 | 12.569-12.613 Mb (-) | Autosomal Recessive | skin/coat/nails limbs/digits/tail phenotype craniofacial |
| Edar | achtung2 | 10 | 58.064-58.138 Mb (-) | Autosomal Recessive | skin/coat/nails limbs/digits/tail phenotype craniofacial |
| Tomt | add | 7 | 109.047-109.055 Mb (-) | Autosomal Recessive | nervous system hearing/vestibular/ear behavior/neurological |
| Bicc1 | artemis | 10 | 70.387-70.622 Mb (-) | Autosomal Recessive | renal/urinary system life span-post-weaning/aging homeostasis/metabolism |
| Grhl1 | bandit | 12 | 25.257-25.302 Mb (+) | Autosomal Recessive | skin/coat/nails growth/size |
| Frem1 | bat | 4 | 82.544-82.698 Mb (-) | Autosomal Recessive | vision/eye skin/coat/nails renal/urinary system limbs/digits/tail phenotype |
| Ptprc | belittle | 1 | 139.960-140.072 Mb (-) | Autosomal Recessive | CD4 deficiency immune system hematopoietic system CD8 deficiency |
| Rho | Bemr3 | 6 | 115.880-115.889 Mb (+) | Autosomal Semidominant | vision/eye |
| Pah | bronze | 10 | 86.985-87.047 Mb (+) | Autosomal Recessive | behavior/neurological homeostasis/metabolism skin/coat/nails pigmentation |
| Atp7a | brown | X | 103.223-103.320 Mb (+) | X-linked Recessive | skin/coat/nails pigmentation |
| Ap3b1 | bullet gray | 13 | 95.129-95.336 Mb (+) | Autosomal Recessive | skin/coat/nails pigmentation MCMV susceptibility immune system |
| Lepr | Business class | 4 | 101.390-101.488 Mb (+) | Autosomal Semidominant | reproductive system homeostasis/metabolism growth/size behavior/neurological adipose tissue |
| Slc45a2 | cardigan | 15 | 10.930-10.960 Mb (+) | Autosomal Recessive | skin/coat/nails pigmentation |
| Mmp14 | cartoon | 14 | 55.050-55.060 Mb (+) | Autosomal Recessive | vision/eye reproductive system life span-post-weaning/aging lethality-embryonic/perinatal growth/size craniofacial |
| Kit | Casper | 5 | 75.971-76.053 Mb (+) | Autosomal Dominant | skin/coat/nails reproductive system pigmentation immune system hematopoietic system |
| Oca2 | charbon | 7 | 63.495-63.792 Mb (+) | Autosomal Recessive | skin/coat/nails pigmentation |
| Lyst | charlotte gray | 13 | 13.683-13.870 Mb (+) | Autosomal Recessive | skin/coat/nails pigmentation |
| Lepr | Cherub | 4 | 101.390-101.488 Mb (+) | Autosomal Semidominant | reproductive system homeostasis/metabolism growth/size behavior/neurological adipose tissue |
| Rab27a | concrete | 9 | 72.893-72.945 Mb (+) | Autosomal Recessive | MCMV susceptibility skin/coat/nails pigmentation immune system |
| Tlr9 | CpG1 | 9 | 106.125-106.129 Mb (+) | Autosomal Semidominant | decreased response to injected CpG DNA TLR signaling defect- type I IFN production by macrophages TLR signaling defect- TNF production by macrophages MCMV susceptibility immune system |
| Tlr9 | CpG2 | 9 | 106.125-106.129 Mb (+) | Autosomal Semidominant | TLR signaling defect- TNF production by macrophages MCMV susceptibility immune system |
| Tlr9 | CpG3 | 9 | 106.125-106.129 Mb (+) | Autosomal Semidominant | decreased response to injected CpG DNA TLR signaling defect- type I IFN production by macrophages TLR signaling defect- TNF production by macrophages MCMV susceptibility immune system |
| Tlr9 | CpG5 | 9 | 106.125-106.129 Mb (+) | Autosomal Semidominant | MCMV susceptibility TLR signaling defect- TNF production by macrophages immune system |
| Tlr9 | CpG6 | 9 | 106.125-106.129 Mb (+) | Autosomal Semidominant | TLR signaling defect- TNF production by macrophages immune system decreased response to injected CpG DNA |
| Tlr9 | CpG7 | 9 | 106.125-106.129 Mb (+) | Autosomal Semidominant | TLR signaling defect- TNF production by macrophages Inflammatory bowel disease phenotype immune system |
| Foxp3 | crusty | X | 7.157-7.172 Mb (+) | X-linked Recessive | immune system growth/size reproductive system limbs/digits/tail phenotype lethality-postnatal hematopoietic system skin/coat/nails |
| Ltbp3 | csp | 19 | 5.741-5.759 Mb (+) | Autosomal Recessive | skeleton phenotype limbs/digits/tail phenotype growth/size craniofacial |
| Sox10 | Dalmatian | 15 | 78.985-78.996 Mb (-) | Autosomal Dominant | pigmentation skin/coat/nails |
| Stat1 | domino | 1 | 52.176-52.219 Mb (+) | Autosomal Recessive | RVFV susceptibility MCMV susceptibility MCMV proliferation in macrophages- increased immune system decreased response to injected CpG DNA decreased NK cell response |
| Hps5 | dorian gray | 7 | 54.016-54.051 Mb (-) | Autosomal Recessive | skin/coat/nails pigmentation |
| Agtpbp1 | drunk | 13 | 59.551-59.659 Mb (-) | Autosomal Recessive | nervous system behavior/neurological |
| Hps3 | earl grey | 3 | 19.896-19.935 Mb (-) | Autosomal Recessive | skin/coat/nails pigmentation |
| Npr3 | eel | 15 | 11.770-11.835 Mb (-) | Autosomal Recessive | skeleton phenotype limbs/digits/tail phenotype growth/size |
| Irf1 | Endeka | 11 | 53.583-53.592 Mb (+) | Autosomal Semidominant | TLR signaling defect- type I IFN production by macrophages NKT cell deficiency MCMV susceptibility hematopoietic system NK cell deficiency immune system decreased NK cell response CD8 deficiency |
| Emr1 | F4/80 | 17 | 57.498-57.629 Mb (+) | Autosomal Semidominant | immune system normal phenotype |
| Oca2 | faded | 7 | 63.495-63.792 Mb (+) | Autosomal Recessive | skin/coat/nails pigmentation |
| Scd1 | flake | 19 | 44.469-44.482 Mb (-) | Autosomal Recessive | skin/coat/nails immune system endocrine/exocrine gland |
| Gsdma3 | Fuzzy | 11 | 98.491-98.500 Mb (-) | Autosomal Semidominant | skin/coat/nails |
| Slc45a2 | galak | 15 | 10.930-10.960 Mb (+) | Autosomal Recessive | skin/coat/nails pigmentation |
| Tyr | ghost | 7 | 94.577-94.642 Mb (-) | Autosomal Recessive | skin/coat/nails pigmentation |
| Wnt7a | gimpy | 6 | 91.314-91.361 Mb (-) | Autosomal Recessive | reproductive system limbs/digits/tail phenotype |
| Edaradd | gizmo | 13 | 12.569-12.613 Mb (-) | Autosomal Recessive | skin/coat/nails limbs/digits/tail phenotype craniofacial |
| Kcnj8 | goodnight | 6 | 142.513-142.520 Mb (-) | Autosomal Recessive | homeostasis/metabolism MCMV susceptibility lethality-postnatal immune system cardiovascular system |
| Alx4 | goofy | 2 | 93.483-93.518 Mb (+) | Autosomal Recessive | limbs/digits/tail phenotype craniofacial |
| Slc45a2 | grey goose | 15 | 10.930-10.960 Mb (+) | Autosomal Recessive | skin/coat/nails pigmentation |
| Lyst | grey wolf | 13 | 13.683-13.870 Mb (+) | Autosomal Recessive | MCMV susceptibility skin/coat/nails pigmentation decreased NK cell response immune system hematopoietic system |
| Cd14 | heedless | 18 | 36.885-36.886 Mb (-) | Autosomal Recessive | TLR signaling defect- type I IFN production by macrophages TLR signaling defect- TNF production by macrophages immune system |
| Lck | iconoclast | 4 | 129.225-129.250 Mb (-) | Autosomal Recessive | hematopoietic system immune system decreased CD8 response CD8 deficiency |
| Tlr6 | insouciant | 5 | 65.344-65.351 Mb (-) | Autosomal Recessive | TLR signaling defect- TNF production by macrophages immune system |
| Trfr2 | iron-man | 5 | 138.011-138.029 Mb (+) | Autosomal Recessive | homeostasis/metabolism |
| Adamts20 | jack white | 15 | 94.098-94.232 Mb (-) | Autosomal Recessive | skin/coat/nails pigmentation |
| Unc13d | jinx | 11 | 115.923-115.939 Mb (-) | Autosomal Recessive | MCMV susceptibility decreased NK cell response immune system hematopoietic system |
| Kcnn2 | jitter | 18 | 45.718-45.845 Mb (+) | Autosomal Recessive | nervous system behavior/neurological |
| Card11 | king | 5 | 141.349-141.477 Mb (-) | Autosomal Recessive | skin/coat/nails NKT cell deficiency NK cell deficiency hematopoietic system immune system decreased NK cell response decreased CD8 response |
| Mlph | koala | 1 | 92.812-92.846 Mb (+) | Autosomal Recessive | skin/coat/nails pigmentation |
| Gja8 | L1 | 3 | 96.723-96.730 Mb (-) | Autosomal Dominant | vision/eye |
| Crygb | L10 | 1 | 65.127-65.129 Mb (-) | Autosomal Semidominant | vision/eye |
| Cryaa | L1N | 17 | 31.815-31.819 Mb (+) | Autosomal Semidominant | vision/eye |
| Crygd | L23 | 1 | 65.108-65.110 Mb (-) | Autosomal Semidominant | vision/eye |
| Myd88 | lackadaisical | 9 | 119.245-119.249 Mb (-) | Autosomal Recessive | TLR signaling defect- type I IFN production by macrophages TLR signaling defect- TNF production by macrophages immune system |
| Tlr2 | languid | 3 | 83.640-83.645 Mb (-) | Autosomal Recessive | TLR signaling defect- TNF production by macrophages immune system |
| Ticam1 | Lps2 | 17 | 56.409-56.416 Mb (-) | Autosomal Semidominant | MCMV susceptibility TLR signaling defect- type I IFN production by macrophages TLR signaling defect- TNF production by macrophages immune system |
| Tlr4 | lps3 | 4 | 66.489-66.590 Mb (+) | Autosomal Recessive | TLR signaling defect- type I IFN production by macrophages TLR signaling defect- TNF production by macrophages immune system |
| Tlr4 | Lps4 | 4 | 66.489-66.489 Mb (+) | Autosomal Semidominant | TLR signaling defect- TNF production by macrophages immune system |
| Map3k14 | lucky | 11 | 103.081-103.129 Mb (-) | Autosomal Recessive | B cell deficiency T-dependent humoral response defect- decreased antibody response to rSFV immune system hematopoietic system |
| Tlr6 | m2sd1 | 5 | 65.344-65.351 Mb (-) | Autosomal Recessive | TLR signaling defect- TNF production by macrophages immune system |
| Tlr6 | m2sd2 | 5 | 65.344-65.351 Mb (-) | Autosomal Recessive | TLR signaling defect- TNF production by macrophages immune system |
| Tlr6 | m2sd3 | 5 | 65.344-65.351 Mb (-) | Autosomal Recessive | immune system TLR signaling defect- TNF production by macrophages |
| Ifnar1 | macro-1 | 16 | 91.485-91.508 Mb (+) | Autosomal Recessive | RVFV proliferation in macrophages- increased influenza proliferation in macrophages- increased adenovirus infection of macrophages- increased MCMV susceptibility MCMV proliferation in macrophages- increased immune system |
| Ifnar2 | macro-2 | 16 | 91.373-91.406 Mb (+) | Autosomal Recessive | RVFV susceptibility RVFV proliferation in macrophages- increased MCMV proliferation in macrophages- increased influenza proliferation in macrophages- increased impaired response to dsDNA- type I IFN production by macrophages immune system adenovirus infection of macrophages- increased |
| Rag1 | maladaptive | 2 | 101.481-101.490 Mb (-) | Autosomal Recessive | CD4 deficiency B cell deficiency RVFV susceptibility immune system hematopoietic system CD8 deficiency |
| Tmprss6 | mask | 15 | 78.270-78.299 Mb (-) | Autosomal Recessive | growth/size skin/coat/nails reproductive system homeostasis/metabolism hematopoietic system embryogenesis |
| Tmprss6 | masquerade | 15 | 78.270-78.299 Mb (-) | Autosomal Recessive | hematopoietic system skin/coat/nails reproductive system homeostasis/metabolism |
| Kcnj8 | mayday | 6 | 142.513-142.520 Mb (-) | Autosomal Recessive | homeostasis/metabolism MCMV susceptibility lethality-postnatal immune system cardiovascular system |
| muted | minnie | 13 | 38.685-38.727 Mb (-) | Autosomal Recessive | hearing/vestibular/ear skin/coat/nails pigmentation |
| Hr | mister clean | 14 | 70.954-70.973 Mb (+) | Autosomal Recessive | skin/coat/nails |
| Dock7 | moonlight | 4 | 98.603-98.788 Mb (-) | Autosomal Recessive | skin/coat/nails pigmentation behavior/neurological |
| Myo5a | new gray | 9 | 74.918-75.072 Mb (+) | Autosomal Recessive | skin/coat/nails pigmentation |
| Myo5a | nut | 9 | 74.918-75.072 Mb (+) | Autosomal Recessive | skin/coat/nails pigmentation |
| Cd36 | oblivious | 5 | 17.288-17.342 Mb (-) | Autosomal Recessive | vision/eye TLR signaling defect- TNF production by macrophages immune system |
| Lepr | odd | 4 | 101.390-101.488 Mb (+) | Unknown | homeostasis/metabolism growth/size behavior/neurological adipose tissue |
| Irak4 | otiose | 15 | 94.374-94.412 Mb (+) | Autosomal Recessive | decreased response to injected CpG DNA TLR signaling defect- type I IFN production by macrophages TLR signaling defect- TNF production by macrophages immune system |
| Hps3 | pam gray | 3 | 19.896-19.935 Mb (-) | Autosomal Recessive | pigmentation skin/coat/nails |
| Adamts20 | panda | 15 | 94.098-94.232 Mb (-) | Autosomal Recessive | skin/coat/nails pigmentation |
| Tnf | PanR1 | 17 | 35.336-35.339 Mb (-) | Autosomal Dominant | TLR signaling defect- TNF production by macrophages immune system |
| Ikbkg | panr2 | X | 71.670-71.697 Mb (+) | X-linked Recessive | NK cell deficiency TLR signaling defect- TNF production by macrophages immune system decreased NK cell response |
| Aqp3 | phoebus | 4 | 41.040-41.045 Mb (-) | Autosomal Recessive | immune system Inflammatory bowel disease phenotype |
| Rxra | pinkie | 2 | 27.533-27.619 Mb (+) | Autosomal Recessive | vision/eye skin/coat/nails skeleton phenotype pigmentation immune system hematopoietic system |
| Krt25 | Plush | 11 | 99.177-99.184 Mb (-) | Autosomal Dominant | skin/coat/nails |
| Myd88 | pococurante | 9 | 119.245-119.249 Mb (-) | Autosomal Recessive | Inflammatory bowel disease phenotype TLR signaling defect- type I IFN production by macrophages TLR signaling defect- TNF production by macrophages MCMV susceptibility immune system decreased response to injected CpG DNA |
| Stat1 | poison | 1 | 52.176-52.219 Mb (+) | Autosomal Recessive | decreased NK cell response MCMV susceptibility immune system |
| Krt33a | Polished | 11 | 99.873-99.878 MB (-) | Autosomal Dominant | skin/coat/nails |
| Krt33a | Polished2 | 11 | 99.873-99.878 Mb (-) | Autosomal Dominant | skin/coat/nails |
| Fgf5 | porcupine | 5 | 98.683-98.706 Mb (+) | Autosomal Recessive | skin/coat/nails |
| Kit | Pretty2 | 5 | 75.971-76.053 Mb (+) | Autosomal Dominant | skin/coat/nails reproductive system pigmentation immune system hematopoietic system |
| Hr | prune | 14 | 70.954-70.973 Mb (+) | Autosomal Recessive | skin/coat/nails |
| Oca2 | quicksilver | 7 | 63.495-63.792 Mb (+) | Autosomal Recessive | skin/coat/nails pigmentation |
| Lrp5 | r18 | 19 | 3.584-3.687 Mb (-) | Autosomal Recessive | vision/eye |
| Krt10 | Rough-fur | 11 | 99.247-99.251 Mb (-) | Autosomal Dominant | skin/coat/nails |
| Tlr7 | rsq1 | X | 163.743-163.768 Mb (-) | X-linked Recessive | TLR signaling defect- type I IFN production by macrophages TLR signaling defect- TNF production by macrophages immune system |
| Tlr7 | rsq2 | X | 163.743-163.768 Mb (-) | X-linked Recessive | TLR signaling defect- TNF production by macrophages immune system |
| Tlr7 | rsq3 | X | 163.743-163.768 Mb (-) | X-linked Recessive | TLR signaling defect- TNF production by macrophages immune system |
| Dtnbp1 | salt and pepper | 13 | 45.017-45.097 Mb (-) | Autosomal Recessive | decreased NK cell response MCMV susceptibility skin/coat/nails pigmentation immune system |
| Muc2 | Schlendrian | 7 | 148.876-148.940 Mb (+) | Autosomal Semidominant | Inflammatory bowel disease phenotype immune system |
| Col1a1 | seal | 11 | 94.797-94.813 Mb (+) | Autosomal Recessive | skeleton phenotype behavior/neurological |
| Myo5a | silver decerebrate | 9 | 74.918-75.072 Mb (+) | Autosomal Recessive | life span-post-weaning/aging lethality-postnatal skin/coat/nails pigmentation nervous system behavior/neurological |
| Myo5a | silver decerebrate 2 | 9 | 74.918-75.072 Mb (+) | Autosomal Recessive | skin/coat/nails life span-post-weaning/aging lethality-postnatal pigmentation nervous system behavior/neurological |
| Krt25 | Sinuous | 11 | 99.177-99.184 Mb (-) | Autosomal Dominant | skin/coat/nails |
| Map3k8 | Sluggish | 18 | 4.331-4.353 Mb (-) | Autosomal Semidominant | TLR signaling defect- type I IFN production by macrophages TLR signaling defect- TNF production by macrophages immune system |
| Kcnj8 | slumber | 6 | 142.513-142.520 Mb (-) | Autosomal Recessive | homeostasis/metabolism MCMV susceptibility lethality-postnatal immune system cardiovascular system |
| Oca2 | snowflake | 7 | 63.495-63.792 Mb (+) | Autosomal Recessive | skin/coat/nails pigmentation |
| KcnJ8 | solitaire | 6 | 142.513-142.520 Mb (-) | Autosomal Recessive | homeostasis/metabolism MCMV susceptibility lethality-postnatal immune system cardiovascular system |
| Lyst | sooty | 13 | 13.683-13.870 Mb (+) | Autosomal Recessive | MCMV susceptibility decreased NK cell response hematopoietic system skin/coat/nails pigmentation immune system |
| Kcnj8 | sos | 6 | 142.513-142.520 Mb (-) | Autosomal Recessive | lethality-postnatal cardiovascular system TLR signaling defect- hypersensitivity to LPS immune system homeostasis/metabolism |
| Lyst | souris | 13 | 13.683-13.870 Mb (+) | Autosomal Recessive | hematopoietic system decreased NK cell response MCMV susceptibility skin/coat/nails pigmentation immune system |
| Mc4r | Southbeach | 18 | 67.019-67.020 Mb (-) | Autosomal Semidominant | growth/size adipose tissue |
| Krt33a | Spikey | 11 | 99.873-99.878 MB (-) | Autosomal Dominant | skin/coat/nails |
| Ptpn6 | spin | 6 | 124.671-124.683 Mb (-) | Autosomal Recessive | immune system hematopoietic system |
| Adamts20 | splotch2 | 15 | 94.098-94.232 Mb (-) | Autosomal Recessive | skin/coat/nails pigmentation |
| Pcdh15 | squirm | 10 | 72.562-74.112 Mb (+) | Autosomal Recessive | nervous system hearing/vestibular/ear behavior/neurological |
| Hps6 | stamper-coat | 19 | 41.350-45.630 Mb (+) | Autosomal Recessive | skin/coat/nails pigmentation |
| Inpp5d | styx | 1 | 89.517-89.617 Mb (+) | Autosomal Recessive | respiratory system life span-post-weaning/aging immune system homeostasis/metabolism hematopoietic system growth/size decreased CD8 response |
| Grid2 | swagger | 6 | 63.207-64.616 Mb (+) | Autosomal Recessive | nervous system behavior/neurological |
| Slc45a2 | sweater | 15 | 10.930-10.960 Mb (+) | Autosomal Recessive | skin/coat/nails pigmentation |
| Atp7a | Tigrou | X | 103.223-103.320 Mb(+) | X-linked Dominant | growth/size skin/coat/nails pigmentation lethality-postnatal lethality-embryonic/perinatal |
| Atp7a | Tigrou-like | X | 103.223-103.320 Mb (+) | X-linked Dominant | lethality-embryonic/perinatal skin/coat/nails pigmentation |
| Hps5 | toffee | 7 | 54.016-54.051 Mb (-) | Autosomal Recessive | MCMV susceptibility vision/eye skin/coat/nails pigmentation immune system |
| Tirap | torpid | 9 | 34.994-35.007 Mb (-) | Autosomal Recessive | TLR signaling defect- TNF production by macrophages immune system |
| Ticam2 | Tram KO | 18 | 46.718-46.734 Mb (-) | Autosomal Recessive | TLR signaling defect- TNF production by macrophages TLR signaling defect- type I IFN production by macrophages immune system |
| Scn8a | TremorD | 15 | 100.701-100.876 Mb (+) | Autosomal Semidominant | nervous system behavior/neurological |
| Cd3e | tumormouse | 9 | 44.807-44.818 Mb (-) | Autosomal Recessive | MCMV susceptibility immune system hematopoietic system |
| Klrb1c | Unnatural | 6 | 128.727-128.739 Mb (-) | Autosomal Semidominant | immune system hematopoietic system NK cell deficiency |
| Egfr | Velvet | 11 | 16.652-16.814 Mb (+) | Autosomal Dominant | immune system Inflammatory bowel disease phenotype vision/eye touch/vibrissae skin/coat/nails lethality-embryonic/perinatal |
| Lepr | Well-upholstered | 4 | 101.390-101.488 Mb (+) | Autosomal Semidominant | reproductive system behavior/neurological homeostasis/metabolism growth/size adipose tissue |
| Adamts20 | whitebelly | 15 | 94.098-94.232 Mb (-) | Autosomal Recessive | skin/coat/nails pigmentation |
| Oca2 | whitemouse | 7 | 63.495-63.792 Mb (+) | Autosomal Recessive | skin/coat/nails pigmentation |
| Atcay | wobbley | 10 | 80.667-80.693 Mb (-) | Autosomal Recessive | nervous system behavior/neurological |
| Mbtps1 | woodrat | 8 | 122.032-122.083 Mb (-) | Autosomal Recessive | skin/coat/nails reproductive system pigmentation lethality-embryonic/perinatal Inflammatory bowel disease phenotype immune system homeostasis/metabolism embryogenesis |
| Lfng | zigzag | 5 | 141.083-141.091 Mb (+) | Autosomal Recessive | immune system skeleton phenotype limbs/digits/tail phenotype |
| Tmprss6 | zorro | 15 | 78.270-78.299 Mb (-) | Autosomal Recessive | skin/coat/nails reproductive system homeostasis/metabolism hematopoietic system growth/size embryogenesis |