Phenotypic Mutations

511 mutations affecting 268 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 511] next >> last >| per page Full List
 
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1 UTSW
has photo
a garfield 2 154791402-155051012 bp (+) Unknown  pigmentation
skin/coat/nails
2 UTSW
has photo
a killer_whale 2 154791402-155051012 bp (+) Unknown  pigmentation
skin/coat/nails
3 UTSW
has photo
a yellowbelly 2 154791402-155051012 bp (+) Unknown  pigmentation
skin/coat/nails
4 UTSW
has photo
Adam17 wavedx 12 21323509-21373632 bp (-) 21340750 Autosomal Recessive  DSS: sensitive
skin/coat/nails
vision/eye
5 UTSW Adamts20 buckeye 15 94270163-94465418 bp (-) 94341087 Autosomal Recessive  pigmentation
skin/coat/nails
6 UTSW
has photo
Adamts20 jack_white 15 94270163-94465418 bp (-) Autosomal Recessive  pigmentation
skin/coat/nails
7 UTSW
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Adamts20 meowth 15 94270163-94465418 bp (-) 94331458 Autosomal Recessive  pigmentation
skin/coat/nails
8 UTSW
has photo
Adamts20 nidoking 15 94270163-94465418 bp (-) 94403445 Autosomal Recessive  pigmentation
skin/coat/nails
9 UTSW
has photo
Adamts20 panda 15 94270163-94465418 bp (-) 94326699 Autosomal Recessive  pigmentation
skin/coat/nails
10 UTSW
has photo
Adamts20 pikachu 15 94270163-94465418 bp (-) 94345990 Autosomal Recessive  pigmentation
skin/coat/nails
11 UTSW
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Adamts20 poliwag 15 94270163-94465418 bp (-) 94394622 Autosomal Recessive  pigmentation
skin/coat/nails
12 UTSW Adamts20 splotch2 15 94270163-94465418 bp (-) 94335561 Autosomal Recessive  pigmentation
skin/coat/nails
13 UTSW Adamts20 whitebelly 15 94270163-94465418 bp (-) Autosomal Recessive  pigmentation
skin/coat/nails
14 UTSW Adgre1 F480 17 57358686-57483529 bp (+) 57444063 Autosomal Semidominant  immune system
normal phenotype
15 UTSW Adgre1 lomax 17 57358686-57483529 bp (+) 57402811 Autosomal Recessive  decrease in macrophages
16 UTSW Adgre1 Onion 17 57358686-57483529 bp (+) 57402841 Unknown  decrease in macrophages
17 UTSW Adgre1 Scallion 17 57358686-57483529 bp (+) 57401977 Unknown  decrease in macrophages
18 UTSW Agtpbp1 drunk 13 59449537-59585227 bp (-) 59512323 Autosomal Recessive  behavior/neurological
nervous system
19 UTSW
has video
Agtpbp1 rio 13 59449537-59585227 bp (-) 59525241 Autosomal Recessive  behavior/neurological
nervous system
20 UTSW Alms1 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive  adipose tissue
growth/size
increase in body weight
21 UTSW
has photo
Alx4 goofy 2 93642384-93681339 bp (+) 93675369 Autosomal Recessive  craniofacial
limbs/digits/tail phenotype
22 UTSW Ank1 Hema6 8 22974844-23150497 bp (+) 23097638 Autosomal Dominant  anemia
23 UTSW
has photo
Ap3b1 bullet_gray 13 94358960-94566316 bp (+) 94451087 Autosomal Recessive  immune system
MCMV susceptibility
pigmentation
skin/coat/nails
24 UTSW
has photo
Ap3d1 christian 10 80706978-80742211 bp (-) 80730042 Unknown  pigmentation
skin/coat/nails
25 UTSW Aqp3 phoebus 4 41092722-41098183 bp (-) 41095252 Autosomal Recessive  DSS: sensitive
immune system
26 UTSW
has video
Atcay wobbley 10 81204508-81230833 bp (-) 81220573 Autosomal Recessive  behavior/neurological
nervous system
27 APN Atp11c 18nih30a X 60223290-60592698 bp (-) 36608577 X-linked Recessive  anemia
decrease in B cells
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
28 APN Atp11c ambrosius X 60223290-60592698 bp (-) 36608577 X-linked Recessive  anemia
decrease in B cells
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
29 UTSW Atp11c emptyhive X 60223290-60592698 bp (-) 60269987 X-linked Recessive  decrease in B cells
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
reproductive system
30 UTSW Atp11c spelling X 60223290-60592698 bp (-) 60290036 X-linked Recessive  decrease in B cells
hematopoietic system
homeostasis/metabolism
liver/biliary system
reproductive system
31 UTSW Atp2b2 lohan 6 113745669-114042613 bp (-) 113760650 Autosomal Recessive  behavior/neurological
nervous system
32 UTSW Atp4a sublytic 7 30712209-30725535 bp (+) 30715800 Autosomal Recessive  hematopoietic system
33 UTSW
has photo
Atp7a brown X 106027276-106124926 bp (+) 106088491 X-linked Recessive  pigmentation
skin/coat/nails
34 UTSW
has photo
Atp7a Tigrou X 106027276-106124926 bp (+) 106088407 X-linked Dominant  growth/size
lethality-embryonic/perinatal
lethality-postnatal
pigmentation
skin/coat/nails
35 UTSW
has photo
Atp7a Tigrou-like X 106027276-106124926 bp (+) 106105250 X-linked Dominant  lethality-embryonic/perinatal
pigmentation
skin/coat/nails
36 UTSW Atp7b daffodil 8 21992785-22060305 bp (-) 21998266 Unknown  liver/biliary system
MTT value of PECs: decreased
37 UTSW Bcl3 sunrise 7 19808462-19822770 bp (-) 19811580 Autosomal Recessive  decrease in IgD+ B cells
decrease in total IgE level
increase in B1 cells
increase in CD44 MFI in CD8
increase in CD44 MFI in T cells
increase in macrophages
increase in ratio of OVA-specific IgE over the total IgE
T-dependent humoral response defect- decreased antibody response to rSFV
38 UTSW
has photo
Bicc1 artemis 10 70922832-71159700 bp (-) 71027954 Autosomal Recessive  homeostasis/metabolism
life span-post-weaning/aging
renal/urinary system
39 UTSW Blk blaenka 14 63372837-63417187 bp (-) 63384002 Autosomal Recessive  increase in IgE response to a Cysteine Protease (Papain)
increase in total IgE level
40 UTSW Blnk busy 19 40928927-40994535 bp (-) 40952391 Autosomal Recessive  decrease in B cells
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
41 UTSW Bloc1s5 minnie 13 38602709-38635109 bp (-) 38606734 Autosomal Recessive  hearing/vestibular/ear
pigmentation
skin/coat/nails
42 UTSW Cacna2d2 hera 9 107399612-107529343 bp (+) 107513280 Autosomal Recessive  growth/size
43 UTSW Camk2a frantic 18 60925618-60988152 bp (+) 60963928 Autosomal Recessive  Novelty: increase in total activity
44 UTSW Card11 hubei 5 140872999-141000596 bp (-) 140906767 Autosomal Recessive  increase in B1a cells
45 UTSW Card11 king 5 140872999-141000596 bp (-) 140891080 Autosomal Recessive  decrease in CD8 response
decrease in NK cell response
decrease in NK cells
decrease in NK T cells
hematopoietic system
immune system
skin/coat/nails
46 UTSW Card11 May 5 140872999-141000596 bp (-) 140876495 Autosomal Dominant  T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
47 UTSW Card11 Tumnus 5 140872999-141000596 bp (-) 140885945 Autosomal Semidominant  increase in B1 cells
48 APN Card11 unmodulated 5 140872999-141000596 bp (-) 140897997 Autosomal Recessive  decrease in CD8 response
decrease in NK cell response
decrease in NK cells
decrease in NK T cells
hematopoietic system
immune system
skin/coat/nails
49 UTSW Card11 unmodulated2 5 140872999-141000596 bp (-) 140883782 Autosomal Recessive  decrease in B:T cells
decrease in B1a cells in B1 cells
decrease in B220 MFI in B cells
decrease in effector memory CD8 T cells in CD8 T cells
decrease in IgM+ B cells
increase in B1b cells in B1 cells
increase in CD4+ T cells
increase in CD8+ T cells
increase in IgM MFI in B cells
increase in NK T cells
increase in T cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
50 UTSW
has video
Cars2 madcow 8 11514021-11550771 bp (-) 11526034 Autosomal Recessive  behavior/neurological
51 UTSW Casp8 amontillado 1 58795374-58847503 bp (+) 58844770 Autosomal Recessive  decrease in CD4:CD8
decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in naive CD8 T cells in CD8 T cells
increase in CD44 MFI in CD8
increase in CD8+ T cells in CD3+ T cells
increase in effector memory CD8 T cells in CD8 T cells
52 UTSW Ccr7 lanzhou 11 99144196-99155077 bp (-) 99145277 Autosomal Recessive  decrease in macrophages
increase in CD4:CD8
increase in CD4+ T cells
53 UTSW Cd14 heedless 18 36725067-36726654 bp (-) 36726171 Autosomal Recessive  immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
54 UTSW Cd22 crullers 7 30865402-30880342 bp (-) 30869883 Autosomal Recessive  decrease in B cells
decrease in B2 cells
decrease in IgD MFI in B cells
increase in B1a cells
increase in B1b cells
55 UTSW Cd22 gansu 7 30865402-30880342 bp (-) 30870105 Autosomal Recessive  decrease in B:T cells
decrease in B2 cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in B1a cells
56 UTSW Cd22 well 7 30865402-30880342 bp (-) 30877787 Autosomal Recessive  decrease in B cells
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
57 UTSW Cd22 yosemite 7 30865402-30880342 bp (-) 30869509 Autosomal Recessive  decrease in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in B1a cells in B1 cells
58 UTSW Cd247 allia 1 165788681-165877277 bp (+) 165855214 Autosomal Recessive  hematopoietic competition - disadvantage
immune system
59 UTSW Cd36 almond_joy 5 17781690-17888959 bp (-) 17813088 Autosomal Recessive  fasting hyperglycemia
60 UTSW Cd36 oblivious 5 17781690-17888959 bp (-) 17874966 Autosomal Recessive  immune system
TLR signaling defect: TNF production by macrophages
vision/eye
61 UTSW Cd3e tumormouse 9 44998743-45009590 bp (-) 45006150 Autosomal Recessive  hematopoietic system
immune system
62 UTSW Cd4 craw 6 124864692-124888221 bp (-) 124867746 Autosomal Recessive  decrease in CD4+ T cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
63 APN Cd4 maat 6 124864692-124888221 bp (-) 124866684 Autosomal Recessive  decrease in CD4+ T cells
immune system
64 APN Cd4 seshat 6 124864692-124888221 bp (-) 124872977 Autosomal Recessive  decrease in CD4+ T cells
immune system
65 APN Cd4 thoth 6 124864692-124888221 bp (-) 124873140 Autosomal Recessive  decrease in CD4+ T cells
immune system
66 UTSW Cd40 bluebonnet 2 165055627-165072948 bp (+) 165062301 Autosomal Recessive  increase in OVA-specific IgE
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
67 UTSW Cd40lg walla X 57212143-57224042 bp (+) 57223465 X-linked Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
68 UTSW Cd79a crab 7 24897381-24902197 bp (+) 24899175 Autosomal Recessive  decrease in B cells
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
69 UTSW Cd8a alfalfa 6 71373427-71379171 bp (+) 71373728 Autosomal Recessive  decrease in CD8+ T cells
decrease in naive CD8 T cells in CD8 T cells
increase in CD4:CD8
increase in CD4+ T cells
increase in CD4+ T cells in CD3+ T cells
increase in CD44 MFI in CD8
increase in central memory CD8 T cells in CD8 T cells
increase in effector memory CD8 T cells in CD8 T cells
MCMV susceptibility
70 UTSW Cd8a wenzhou 6 71373427-71379171 bp (+) 71373872 Autosomal Recessive  decrease in CD8+ T cells
decrease in CD8+ T cells in CD3+ T cells
decrease in effector memory CD8 T cells in CD8 T cells
decrease in naive CD8 T cells in CD8 T cells
increase in CD4:CD8
71 UTSW Cd8b1 Carlsbad 6 71322812-71337451 bp (+) 71334101 Autosomal Semidominant  decrease in CD8+ T cells in CD3+ T cells
increase in CD4:CD8
increase in CD4+ T cells in CD3+ T cells
T-dependent humoral response defect- increased antibody response to rSFV
72 UTSW Cdh23 dee_dee 10 60302748-60696490 bp (-) 60308056 Autosomal Recessive  hearing/vestibular/ear
73 UTSW Chrne pip-squeak 11 70614883-70619216 bp (-) 70615130 Autosomal Recessive  growth/size
74 UTSW Ciita sisal 16 10488178-10527564 bp (+) 10513288 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in naive CD4 T cells in CD4 T cells
increase in CD44 MFI in CD4
increase in CD8+ T cells in CD3+ T cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
75 UTSW Clock uhr 5 76212177-76304548 bp (-) 76229554 Autosomal Recessive  increase in body weight
76 UTSW Cngb1 stevie 8 95239045-95306585 bp (-) 95260130 Autosomal Recessive  eye: decrease in BM to ELM thickness
eye: decrease in BM to ILM thickness
eye: decrease in ONL thickness
vision/eye
77 UTSW Cntnap1 Penny 11 101170523-101190724 bp (+) 101186764 Autosomal Semidominant  decrease in body weight
78 UTSW Col1a1 seal 11 94936224-94953042 bp (+) 94947184 Autosomal Recessive  behavior/neurological
skeleton phenotype
79 UTSW Col4a4 aoba 1 82448423-82586849 bp (-) 82535740 Autosomal Recessive  digestive/alimentary
hearing/vestibular/ear
renal/urinary system
80 UTSW Col6a2 piddling 10 76595762-76623630 bp (-) 76608106 Autosomal Recessive  decrease in body weight
growth/size
81 UTSW Cp iron10 3 19957054-20009145 bp (+) 19989148 Autosomal Recessive  iron deficiency
82 UTSW Cryaa L1n 17 31677933-31681722 bp (+) 31681025 Autosomal Semidominant  vision/eye
83 UTSW
has photo
Crygb L10 1 65080219-65082288 bp (-) 65082157 Autosomal Semidominant  vision/eye
84 UTSW Crygd L23 1 65061872-65063452 bp (-) 65063084 Autosomal Semidominant  vision/eye
85 UTSW Dck rosa 5 88764996-88783281 bp (+) 88772723 Autosomal Recessive  decrease in B cells
decrease in CD4:CD8
decrease in CD4+ T cells in CD3+ T cells
decrease in IgD MFI in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in CD8+ T cells in CD3+ T cells
increase in macrophages
increase in OVA-specific IgE
increase in total IgE level
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
86 UTSW Dclre1c kiwis 2 3424131-3464130 bp (+) 3436475 Autosomal Recessive  decrease in B cells
decrease in B1a cells
decrease in B2 cells
decrease in B220 MFI in B cells
decrease in CD4+ T cells
decrease in CD8+ T cells
decrease in IgD MFI in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
decrease in NK T cells
decrease in T cells
increase in B1b cells
increase in CD11c+ DCs
increase in CD44 MFI in CD4
increase in CD44 MFI in CD8
increase in CD44 MFI in T cells
increase in macrophages
increase in neutrophils
increase in NK cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
87 UTSW Diap1 Guangzhou 18 37843601-37935476 bp (-) 37896093 Autosomal Semidominant  decrease in OVA-specific IgE
increase in CD44 MFI in CD4
increase in CD44 MFI in CD8
increase in CD44 MFI in T cells
increase in CD44+ CD4 T cells
increase in CD44+ CD8 T cells
increase in central memory CD4 T cells in CD4 T cells
increase in central memory CD8 T cells in CD8 T cells
increase in effector memory CD4 T cells in CD4 T cells
MCMV susceptibility
post-MCMV decrease in CD8+ T cells in CD3+ T cells
post-MCMV decrease in naive CD4 T cells in CD4 T cells
post-MCMV decrease in naive CD8 T cells in CD8 T cells
post-MCMV increase in CD4:CD8
post-MCMV increase in CD4+ T cells in CD3+ T cells
post-MCMV increase in CD44 MFI in CD4
post-MCMV increase in CD44 MFI in CD8
post-MCMV increase in CD44 MFI in T cells
post-MCMV increase in central memory CD4 T cells in CD4 T cells
post-MCMV increase in central memory CD8 T cells in CD8 T cells
post-MCMV increase in effector memory CD4 T cells in CD4 T cells
88 UTSW Dock2 Arches 11 34226815-34783892 bp (-) 34689760 Autosomal Semidominant  decrease in CD4:CD8
decrease in CD4+ T cells in CD3+ T cells
increase in B1 cells
increase in CD8+ T cells in CD3+ T cells
89 UTSW Dock2 capitol_reef 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive  increase in OVA-specific IgE
increase in total IgE level
90 UTSW Dock2 denali 11 34226815-34783892 bp (-) 34229472 Autosomal Recessive  decrease in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in macrophages
increase in neutrophils
increase in NK cells
increase in total IgE level
91 UTSW Dock2 dew 11 34226815-34783892 bp (-) 34248636 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
T-dependent humoral response defect- decreased antibody response to rSFV
92 UTSW Dock2 frazz 11 34226815-34783892 bp (-) 34248572 Autosomal Recessive  decrease in B cells
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
93 UTSW Dock2 frizz 11 34226815-34783892 bp (-) 34258184 Autosomal Recessive  decrease in B cells
decrease in CD4+ T cells
decrease in CD8+ T cells
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
94 UTSW Dock2 liaoning 11 34226815-34783892 bp (-) 34708793 Autosomal Recessive  decrease in CD4:CD8
decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
increase in B1b cells in B1 cells
increase in CD8+ T cells in CD3+ T cells
95 UTSW
has photo
Dock7 moonlight 4 98936675-99120860 bp (-) Autosomal Recessive  behavior/neurological
DSS: sensitive day 7
pigmentation
skin/coat/nails
96 APN Dock8 captain_morgan 19 24999529-25202432 bp (+) 25127711 Autosomal Recessive  decrease in B cells
decrease in CD4+ T cells
decrease in CD8+ T cells
immune system
97 APN Dock8 primurus 19 24999529-25202432 bp (+) 25183609 Autosomal Recessive  decrease in B cells
decrease in CD4+ T cells
decrease in CD8+ T cells
immune system
98 UTSW Dock8 snowdrop 19 24999529-25202432 bp (+) 25184941 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
99 UTSW
has photo
Dsg4 burrito 18 20436175-20471821 bp (+) 20451862 Autosomal Recessive  skin/coat/nails
100 UTSW
has video
Dst gobble 1 33908225-34308661 bp (+) 34165155 Autosomal Recessive  behavior/neurological
growth/size
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