Phenotypic Mutations

538 mutations affecting 267 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 539] next >> last >| per page Full List Export
 
Source question?
Photo question?
Gene question?
Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Phenotypic Category question?

and none of
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 Unknown DSS: sensitive
skin/coat/nails
vision/eye
5 UTSW Adamts20 buckeye 15 94270163-94465418 bp (-) 94341087 Unknown (1) pigmentation
skin/coat/nails
6 UTSW
has photo
Adamts20 jack_white 15 94270163-94465418 bp (-) Unknown pigmentation
skin/coat/nails
7 UTSW
has photo
Adamts20 meowth 15 94270163-94465418 bp (-) 94331458 Autosomal Recessive (1)
Autosomal Semidominant (2)
pigmentation
skin/coat/nails
8 UTSW
has photo
Adamts20 nidoking 15 94270163-94465418 bp (-) 94403445 Autosomal Recessive (1) pigmentation
skin/coat/nails
9 UTSW
has photo
Adamts20 panda 15 94270163-94465418 bp (-) 94326699 Unknown pigmentation
skin/coat/nails
10 UTSW
has photo
Adamts20 pikachu 15 94270163-94465418 bp (-) 94345990 Autosomal Recessive (1) pigmentation
skin/coat/nails
11 UTSW
has photo
Adamts20 poliwag 15 94270163-94465418 bp (-) 94394622 Autosomal Recessive (1) pigmentation
skin/coat/nails
12 UTSW Adamts20 splotch2 15 94270163-94465418 bp (-) 94335561 Unknown pigmentation
skin/coat/nails
13 UTSW Adamts20 whitebelly 15 94270163-94465418 bp (-) Unknown pigmentation
skin/coat/nails
14 UTSW Adgre1 F480 17 57358686-57483529 bp (+) 57444063 Unknown immune system
normal phenotype
15 UTSW Adgre1 lomax 17 57358686-57483529 bp (+) 57402811 Autosomal Recessive (1) macrophages - decreased
16 UTSW Adgre1 Onion 17 57358686-57483529 bp (+) 57402841 Unknown macrophages - decreased
17 UTSW Adgre1 Scallion 17 57358686-57483529 bp (+) 57401977 Autosomal Semidominant (1) macrophages - decreased
18 UTSW Adgrf5 sweetie 17 43389466-43459557 bp (+) 43450983 Autosomal Recessive (1) 30 min GTT hyperglycemic
19 UTSW Agtpbp1 drunk 13 59449537-59585227 bp (-) 59512323 Unknown behavior/neurological
nervous system
20 UTSW
has video
Agtpbp1 rio 13 59449537-59585227 bp (-) 59525241 Unknown behavior/neurological
nervous system
21 UTSW Alms1 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive (1)
Autosomal Semidominant (1)
adipose tissue
Body Weight - increased
growth/size
22 UTSW
has photo
Alx4 goofy 2 93642384-93681339 bp (+) 93675369 Unknown craniofacial
limbs/digits/tail phenotype
23 UTSW Ank1 Hema6 8 22974844-23150497 bp (+) 23097638 Unknown anemia
24 UTSW
has photo
Ap3b1 bullet_gray 13 94358960-94566316 bp (+) 94451087 Unknown (2) immune system
MCMV susceptibility
pigmentation
skin/coat/nails
25 UTSW
has photo
Ap3d1 christian 10 80706978-80742211 bp (-) 80730042 Autosomal Semidominant (1) pigmentation
skin/coat/nails
26 UTSW Aqp3 phoebus 4 41092722-41098183 bp (-) 41095252 Unknown (1) DSS: sensitive
immune system
27 UTSW
has video
Atcay wobbley 10 81204508-81230833 bp (-) 81220573 Unknown behavior/neurological
nervous system
28 APN Atp11c 18nih30a X 60223290-60592698 bp (-) 36608577 Unknown anemia
B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
29 APN Atp11c ambrosius X 60223290-60592698 bp (-) 36608577 Unknown anemia
B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
30 UTSW Atp11c emptyhive X 60223290-60592698 bp (-) 60269987 Unknown B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
reproductive system
31 UTSW Atp11c spelling X 60223290-60592698 bp (-) 60290036 Unknown B cells - decreased
hematopoietic system
homeostasis/metabolism
liver/biliary system
reproductive system
32 UTSW Atp2b2 lohan 6 113745669-114042613 bp (-) 113760650 Autosomal Recessive (4) behavior/neurological
nervous system
33 UTSW Atp4a sublytic 7 30712209-30725535 bp (+) 30715800 Unknown hematopoietic system
34 UTSW
has photo
Atp7a brown X 106027276-106124926 bp (+) 106088491 Unknown pigmentation
skin/coat/nails
35 UTSW
has photo
Atp7a Tigrou X 106027276-106124926 bp (+) 106088407 Unknown growth/size
lethality-embryonic/perinatal
lethality-postnatal
pigmentation
skin/coat/nails
36 UTSW
has photo
Atp7a Tigrou-like X 106027276-106124926 bp (+) 106105250 Unknown lethality-embryonic/perinatal
pigmentation
skin/coat/nails
37 UTSW Atp7b daffodil 8 21992785-22060305 bp (-) 21998266 Unknown (1) liver/biliary system
MTT Value of PECs - decreased
38 UTSW Bcl3 sunrise 7 19808462-19822770 bp (-) 19811580 Autosomal Dominant (1)
Autosomal Recessive (9)

Autosomal Semidominant (4)
B1 cells - increased
CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
IgD+ B cells - decreased
macrophages - increased
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - decreased
39 UTSW
has photo
Bicc1 artemis 10 70922832-71159700 bp (-) 71027954 Unknown homeostasis/metabolism
life span-post-weaning/aging
renal/urinary system
40 UTSW Blk blaenka 14 63372837-63417187 bp (-) 63384002 Autosomal Recessive (4) IgE response to a Cysteine Protease (Papain) - increased
total IgE level - increased
41 UTSW Blnk busy 19 40928927-40994535 bp (-) 40952391 Unknown (2) B cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
42 UTSW Bloc1s5 minnie 13 38602709-38635109 bp (-) 38606734 Unknown hearing/vestibular/ear
pigmentation
skin/coat/nails
43 UTSW Cacna2d2 hera 9 107399612-107529343 bp (+) 107513280 Autosomal Recessive (2) growth/size
44 UTSW Camk2a frantic 18 60925618-60988152 bp (+) 60963928 Autosomal Recessive (1) Novelty: increase in total activity
45 UTSW Card11 dealer 5 140872999-141000596 bp (-) 140885877 Autosomal Semidominant (3) B1a cells in B1 cells - decreased
B1b cells in B1 cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
46 UTSW Card11 hubei 5 140872999-141000596 bp (-) 140906767 Autosomal Recessive (1) B1a cells - increased
47 UTSW Card11 king 5 140872999-141000596 bp (-) 140891080 Unknown (1) CTL killing - decreased
hematopoietic system
immune system
NK cell response - decreased
NK cells - decreased
NK T cells - decreased
skin/coat/nails
48 UTSW Card11 May 5 140872999-141000596 bp (-) 140876495 Unknown T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
49 UTSW Card11 Tumnus 5 140872999-141000596 bp (-) 140885945 Autosomal Semidominant (3) B1 cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
50 APN Card11 unmodulated 5 140872999-141000596 bp (-) 140897997 Unknown CD8 response - decreased
hematopoietic system
immune system
NK cell response - decreased
NK cells - decreased
NK T cells - decreased
skin/coat/nails
51 UTSW Card11 unmodulated2 5 140872999-141000596 bp (-) 140883782 Autosomal Dominant (2)
Autosomal Recessive (9)

Autosomal Semidominant (4)
B:T cells - decreased
B1a cells in B1 cells - decreased
B1b cells in B1 cells - increased
B220 MFI in B cells - decreased
CD4+ T cells - increased
CD8+ T cells - increased
effector memory CD8 T cells in CD8 T cells - decreased
IgM MFI in B cells - increased
IgM+ B cells - decreased
NK T cells - increased
T cells - increased
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
52 UTSW
has video
Cars2 madcow 8 11514021-11550771 bp (-) 11526034 Unknown behavior/neurological
53 UTSW Casp8 amontillado 1 58795374-58847503 bp (+) 58844770 Autosomal Dominant (1)
Autosomal Recessive (13)

Autosomal Semidominant (1)
CD11c+ DCs - increased
CD4:CD8 - decreased
CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - decreased
CD44 MFI in CD4 - increased
CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
CD8+ T cells in CD3+ T cells - increased
effector memory CD4 T cells in CD4 T cells - increased
effector memory CD8 T cells in CD8 T cells - increased
naive CD8 T cells in CD8 T cells - decreased
neutrophils - increased
NK cells - increased
NK T cells - increased
54 UTSW Ccr7 lanzhou 11 99144196-99155077 bp (-) 99145277 Autosomal Recessive (2)
Autosomal Semidominant (1)
CD4:CD8 - increased
CD4+ T cells - increased
macrophages - decreased
55 UTSW Cd14 heedless 18 36725067-36726654 bp (-) 36726171 Unknown (1) immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
56 UTSW Cd22 crullers 7 30865402-30880342 bp (-) 30869883 Autosomal Dominant (1)
Autosomal Recessive (9)

Autosomal Semidominant (3)
B cells - decreased
B1a cells - increased
B1b cells - increased
B2 cells - decreased
IgD MFI in B cells - decreased
post-MCMV B cells - decreased
post-MCMV IgD+ B cells - decreased
post-MCMV IgM+ B cells - decreased
57 UTSW Cd22 gansu 7 30865402-30880342 bp (-) 30870105 Autosomal Recessive (7) B:T cells - decreased
B1a cells - increased
B2 cells - decreased
IgD+ B cells - decreased
IgM+ B cells - decreased
58 UTSW Cd22 rain 7 30865402-30880342 bp (-) 30877534 Autosomal Recessive (9) B cells - decreased
B:T cells - decreased
CD4+ T cells - increased
CD8+ T cells - increased
IgD MFI in B cells - decreased
IgD+ B cells - decreased
IgM MFI in B cells - decreased
IgM+ B cells - decreased
T cells - increased
59 UTSW Cd22 well 7 30865402-30880342 bp (-) 30877787 Unknown B cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
60 UTSW Cd22 yosemite 7 30865402-30880342 bp (-) 30869509 Unknown (1)
Autosomal Dominant (5)

Autosomal Recessive (4)


Autosomal Semidominant (6)
B cells - decreased
B1a cells in B1 cells - increased
IgD+ B cells - decreased
IgM+ B cells - decreased
61 UTSW Cd247 allia 1 165788681-165877277 bp (+) 165855214 Unknown hematopoietic competition - disadvantage
immune system
62 UTSW Cd36 almond_joy 5 17781690-17888959 bp (-) 17813088 Autosomal Recessive (1) fasting hyperglycemia
63 UTSW Cd36 oblivious 5 17781690-17888959 bp (-) 17874966 Unknown (1) immune system
TLR signaling defect: TNF production by macrophages
vision/eye
64 UTSW Cd3e tumormouse 9 44998743-45009590 bp (-) 45006150 Unknown (1) hematopoietic system
immune system
65 UTSW Cd4 craw 6 124864692-124888221 bp (-) 124867746 Unknown (3) CD4+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
66 APN Cd4 maat 6 124864692-124888221 bp (-) 124866684 Unknown CD4+ T cells - decreased
immune system
67 APN Cd4 seshat 6 124864692-124888221 bp (-) 124872977 Unknown CD4+ T cells - decreased
immune system
68 APN Cd4 thoth 6 124864692-124888221 bp (-) 124873140 Unknown CD4+ T cells - decreased
immune system
69 UTSW Cd40 bluebonnet 2 165055627-165072948 bp (+) 165062301 Autosomal Recessive (2)
Autosomal Semidominant (1)
OVA-specific IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
70 UTSW Cd40 noelle 2 165055627-165072948 bp (+) 165063563 Autosomal Dominant (1)
Autosomal Recessive (3)

Autosomal Semidominant (1)
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - decreased
71 UTSW Cd40lg walla X 57212143-57224042 bp (+) 57223465 Unknown (2) T-dependent humoral response defect- decreased antibody response to rSFV
72 UTSW Cd79a crab 7 24897381-24902197 bp (+) 24899175 Unknown (2) B cells - decreased
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
73 UTSW Cd79a elementary 7 24897381-24902197 bp (+) 24899262 Autosomal Recessive (1)
Autosomal Semidominant (1)
B1b cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
74 UTSW Cd8a alfalfa 6 71373427-71379171 bp (+) 71373728 Autosomal Dominant (1)
Autosomal Recessive (7)

Autosomal Semidominant (6)
CD4:CD8 - increased
CD4+ T cells - increased
CD4+ T cells in CD3+ T cells - increased
CD44 MFI in CD8 - increased
CD8+ T cells - decreased
central memory CD8 T cells in CD8 T cells - increased
effector memory CD8 T cells in CD8 T cells - increased
MCMV susceptibility
naive CD8 T cells in CD8 T cells - decreased
post-MCMV CD4+ T cells in CD3+ T cells - increased
post-MCMV CD8+ T cells - decreased
post-MCMV CD8+ T cells in CD3+ T cells - decreased
75 UTSW Cd8a wenzhou 6 71373427-71379171 bp (+) 71373872 Autosomal Recessive (5) CD4:CD8 - increased
CD8+ T cells - decreased
CD8+ T cells in CD3+ T cells - decreased
effector memory CD8 T cells in CD8 T cells - decreased
naive CD8 T cells in CD8 T cells - decreased
76 UTSW Cd8b1 Carlsbad 6 71322812-71337451 bp (+) 71334101 Autosomal Recessive (1)
Autosomal Semidominant (3)
CD4:CD8 - increased
CD4+ T cells in CD3+ T cells - increased
CD8+ T cells in CD3+ T cells - decreased
T-dependent humoral response defect- increased antibody response to rSFV
77 UTSW Cdh23 dee_dee 10 60302748-60696490 bp (-) 60308056 Autosomal Recessive (1) hearing/vestibular/ear
78 UTSW Chrne pip-squeak 11 70614883-70619216 bp (-) 70615130 Autosomal Recessive (10) growth/size
79 UTSW Ciita sisal 16 10488178-10527564 bp (+) 10513288 Autosomal Recessive (9) CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - decreased
CD44 MFI in CD4 - increased
CD8+ T cells in CD3+ T cells - increased
naive CD4 T cells in CD4 T cells - decreased
post-MCMV CD4:CD8 - decreased
post-MCMV CD8+ T cells in CD3+ T cells - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
80 UTSW Clock uhr 5 76212177-76304548 bp (-) 76229554 Autosomal Recessive (2)
Autosomal Semidominant (1)
Body Weight - increased
81 UTSW Cngb1 stevie 8 95239045-95306585 bp (-) 95260130 Autosomal Recessive (3) eye: decrease in BM to ELM thickness
eye: decrease in BM to ILM thickness
eye: decrease in ONL thickness
vision/eye
82 UTSW Cntnap1 Penny 11 101170523-101190724 bp (+) 101186764 Autosomal Semidominant (3) Body Weight - decreased
83 UTSW Col1a1 seal 11 94936224-94953042 bp (+) 94947184 Unknown behavior/neurological
skeleton phenotype
84 UTSW Col4a4 aoba 1 82448423-82586849 bp (-) 82535740 Unknown (1) digestive/alimentary
hearing/vestibular/ear
renal/urinary system
85 UTSW Col6a2 piddling 10 76595762-76623630 bp (-) 76608106 Autosomal Recessive (2) Body Weight - decreased
growth/size
86 UTSW Cp iron10 3 19957054-20009145 bp (+) 19989148 Unknown iron deficiency
87 UTSW Cryaa L1n 17 31677933-31681722 bp (+) 31681025 Unknown vision/eye
88 UTSW
has photo
Crygb L10 1 65080219-65082288 bp (-) 65082157 Unknown vision/eye
89 UTSW Crygd L23 1 65061872-65063452 bp (-) 65063084 Unknown vision/eye
90 UTSW Dck rosa 5 88764996-88783281 bp (+) 88772723 Autosomal Recessive (19) B cells - decreased
CD4:CD8 - decreased
CD4+ T cells in CD3+ T cells - decreased
CD8+ T cells in CD3+ T cells - increased
IgD MFI in B cells - decreased
IgD+ B cells - decreased
IgM+ B cells - decreased
macrophages - increased
OVA-specific IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - increased
91 UTSW Dclre1c kiwis 2 3424131-3464130 bp (+) 3436475 Autosomal Recessive (23) B cells - decreased
B1a cells - decreased
B1b cells - increased
B2 cells - decreased
B220 MFI in B cells - decreased
CD11c+ DCs - increased
CD4+ T cells - decreased
CD44 MFI in CD4 - increased
CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
CD8+ T cells - decreased
IgD MFI in B cells - decreased
IgD+ B cells - decreased
IgM+ B cells - decreased
macrophages - increased
neutrophils - increased
NK cells - increased
NK T cells - decreased
T cells - decreased
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
92 UTSW Diap1 damselfly 18 37843601-37935476 bp (-) 37897550 Autosomal Recessive (17) CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - decreased
CD44 MFI in CD4 - increased
CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
CD44+ CD4 T cells - increased
CD44+ CD8 T cells - increased
CD44+ T cells - increased
CD8+ T cells in CD3+ T cells - increased
central memory CD4 T cells in CD4 T cells - increased
central memory CD8 T cells in CD8 T cells - increased
effector memory CD4 T cells in CD4 T cells - increased
effector memory CD8 T cells in CD8 T cells - increased
naive CD4 T cells in CD4 T cells - decreased
naive CD8 T cells in CD8 T cells - decreased
93 UTSW Diap1 Guangzhou 18 37843601-37935476 bp (-) 37896093 Unknown (13)
Autosomal Dominant (1)

Autosomal Semidominant (8)
CD44 MFI in CD4 - increased
CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
CD44+ CD4 T cells - increased
CD44+ CD8 T cells - increased
central memory CD4 T cells in CD4 T cells - increased
central memory CD8 T cells in CD8 T cells - increased
effector memory CD4 T cells in CD4 T cells - increased
MCMV susceptibility
OVA-specific IgE - decreased
post-MCMV CD4:CD8 - increased
post-MCMV CD4+ T cells in CD3+ T cells - increased
post-MCMV CD44 MFI in CD4 - increased
post-MCMV CD44 MFI in CD8 - increased
post-MCMV CD44 MFI in T cells - increased
post-MCMV CD8+ T cells in CD3+ T cells - decreased
post-MCMV central memory CD4 T cells in CD4 T cells - increased
post-MCMV central memory CD8 T cells in CD8 T cells - increased
post-MCMV effector memory CD4 T cells in CD4 T cells - increased
post-MCMV naive CD4 T cells in CD4 T cells - decreased
post-MCMV naive CD8 T cells in CD8 T cells - decreased
94 UTSW Diap1 Sheer 18 37843601-37935476 bp (-) 37896093 Autosomal Recessive (2)
Autosomal Semidominant (1)
B1 cells - decreased
CD8+ T cells - decreased
T cells - decreased
95 UTSW Dock2 Arches 11 34226815-34783892 bp (-) 34689760 Autosomal Recessive (1)
Autosomal Semidominant (3)
B1 cells - increased
CD4:CD8 - decreased
CD4+ T cells in CD3+ T cells - decreased
CD8+ T cells in CD3+ T cells - increased
96 UTSW Dock2 capitol_reef 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive (6) OVA-specific IgE - increased
total IgE level - increased
97 UTSW Dock2 denali 11 34226815-34783892 bp (-) 34229472 Autosomal Recessive (2)
Autosomal Semidominant (5)
B cells - decreased
IgD+ B cells - decreased
IgM+ B cells - decreased
macrophages - increased
neutrophils - increased
NK cells - increased
total IgE level - increased
98 UTSW Dock2 dew 11 34226815-34783892 bp (-) 34248636 Unknown (1) CD4+ T cells - decreased
CD8+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
99 UTSW Dock2 frazz 11 34226815-34783892 bp (-) 34248572 Unknown (2) B cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
100 UTSW Dock2 frizz 11 34226815-34783892 bp (-) 34258184 Unknown (1) B cells - decreased
CD4+ T cells - decreased
CD8+ T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
[records 1 to 100 of 539] next >> last >|