Phenotypic Mutations

93 mutations affecting 76 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 93 of 93] per page Full List
 
Source question?
Photo question?
Gene question?
Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Phenotypic Category question?
1 UTSW Itgax Adendritic 7 128129547-128150656 bp (+) 128148572 Autosomal Semidominant  decrease in CD11b+ DCs in CD11c+ cells
decrease in CD11c+ DCs
decrease in pDCs in CD11c+ cells
2 UTSW Pik3r1 anubis 13 101680563-101768217 bp (-) 101702776 Autosomal Recessive  decrease in B cells
decrease in B:T cells
decrease in B1a cells in B1 cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in CD4+ T cells
increase in CD8+ T cells
increase in IgE response to a Cysteine Protease (Papain)
increase in OVA-specific IgE
increase in T cells
3 UTSW Alms1 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive  adipose tissue
growth/size
increase in body weight
4 UTSW
has photo
Grhl1 bandit 12 24572287-24617391 bp (+) 24578027 Autosomal Recessive  decrease in body weight
growth/size
skin/coat/nails
5 UTSW Ptprc belittle 1 138062861-138175708 bp (-) 138137493 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
hematopoietic system
immune system
6 UTSW Tlr4 bugsy 4 66827584-66930284 bp (+) 66839254 Autosomal Recessive  Macrophage necroptosis: high
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
7 UTSW
has photo
Lepr Business_class 4 101717404-101815352 bp (+) 101764872 Autosomal Semidominant  adipose tissue
behavior/neurological
growth/size
homeostasis/metabolism
reproductive system
8 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
9 UTSW
has photo
Tyrp1 ca-los 4 80834123-80851719 bp (+) 80844868 Autosomal Recessive  pigmentation
skin/coat/nails
10 UTSW
has photo
Slc45a2 cardigan 15 11000721-11029233 bp (+) 11022172 Autosomal Recessive  pigmentation
skin/coat/nails
11 UTSW Zeb1 cellophane 18 5591860-5775467 bp (+) 5770554 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
12 UTSW
has photo
Lyst charlotte_gray 13 13590409-13777440 bp (+) 13602026 Autosomal Recessive  pigmentation
skin/coat/nails
13 UTSW
has photo
Lyst charzard 13 13590409-13777440 bp (+) 13647083 Autosomal Recessive  pigmentation
skin/coat/nails
14 UTSW
has photo
Lepr Cherub 4 101717404-101815352 bp (+) 101768063 Autosomal Semidominant  adipose tissue
behavior/neurological
growth/size
homeostasis/metabolism
reproductive system
15 UTSW
has photo
Rab27a concrete 9 73044854-73098501 bp (+) 73082409 Autosomal Recessive  immune system
MCMV susceptibility
pigmentation
skin/coat/nails
16 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
17 UTSW
has video
Grid2 crawler 6 63255876-64668282 bp (+) 64429694 Autosomal Recessive  behavior/neurological
growth/size
nervous system
18 UTSW Lyn Cress 4 3678115-3813122 bp (+) 3789908 Autosomal Semidominant  decrease in B cells
decrease in B:T cells
decrease in B220 MFI in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in B1a cells
increase in B1a cells in B1 cells
increase in CD4+ T cells
increase in CD8+ 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
19 UTSW
has video
Slc26a4 cul-de-sac 12 31519827-31559969 bp (-) 31525568 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
20 UTSW Nek7 Cuties 1 138482875-138620141 bp (-) 138544242 Autosomal Semidominant  NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
21 UTSW Diap1 damselfly 18 37843601-37935476 bp (-) 37897550 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
decrease in naive CD8 T cells in CD8 T cells
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 CD44+ T cells
increase in CD8+ T cells in CD3+ 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
increase in effector memory CD8 T cells in CD8 T cells
22 UTSW
has video
Scn8a dan 15 100870683-101045929 bp (+) 101035624 Autosomal Recessive  limbs/digits/tail phenotype
23 UTSW Tap2 date2 17 34203527-34216321 bp (+) 34214032 Autosomal Recessive  decrease in CD44 MFI in CD4
decrease in CD44+ CD8 T cells
decrease in CD8+ T cells
decrease in CD8+ T cells in CD3+ T cells
decrease in CTL killing dominant epitope
decrease in effector memory CD4 T cells in CD4 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 naive CD4 T cells in CD4 T cells
increase in NK cells
24 UTSW
has photo
Spag9 dazzle 11 93996091-94126085 bp (+) 94093624 Autosomal Recessive  skin/coat/nails
25 UTSW Cdh23 dee_dee 10 60302748-60696490 bp (-) 60308056 Autosomal Recessive  hearing/vestibular/ear
26 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
27 UTSW Sell dim_sum2 1 164061982-164084181 bp (+) 164065661 Autosomal Recessive  decrease in naive CD4 T cells in CD4 T cells
decrease in naive CD8 T cells in CD8 T cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
28 UTSW
has video
Slc26a4 discobolus 12 31519827-31559969 bp (-) 31540533 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
29 UTSW
has photohas video
Grm1 donald 10 10686059-11082356 bp (-) 10741508 Autosomal Recessive  behavior/neurological
growth/size
life span-post-weaning/aging
nervous system
30 UTSW
has photo
Hps5 dorian_gray 7 46760466-46796064 bp (-) 46784145 Autosomal Recessive  pigmentation
skin/coat/nails
31 UTSW Entpd5 eatsy 12 84373875-84409029 bp (-) 84382295 Autosomal Recessive  decrease in IgD MFI in B cells
decrease in phagocytosis in PECs
DSS: sensitive
DSS: sensitive day 10
DSS: sensitive day 7
growth/size
increase in 125-03 response
32 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
33 UTSW Nfkb1 Finlay 3 135584655-135691547 bp (-) 135595053 Autosomal Semidominant  Nlrc4 inflammasome: low response
NLRP3 inflammasome: low response
T-dependent humoral response defect- decreased antibody response to rSFV
34 UTSW Camk2a frantic 18 60925618-60988152 bp (+) 60963928 Autosomal Recessive  Novelty: increase in total activity
35 UTSW
has photo
Tshr freckle 12 91400994-91540509 bp (+) 91538226 Autosomal Recessive  endocrine/exocrine gland
growth/size
36 UTSW Slc45a2 galak 15 11000721-11029233 bp (+) 11012667 Autosomal Recessive  pigmentation
skin/coat/nails
37 UTSW
has photo
Hps3 gandalf 3 19995945-20035315 bp (-) 20012796 Autosomal Recessive  pigmentation
skin/coat/nails
38 UTSW Irf8 Gemini 8 120736358-120756694 bp (+) 120743883 Autosomal Semidominant  cellular phenotype
decrease in CD8+ T cells
decrease in response to injected CpG DNA
immune system
MCMV susceptibility
39 UTSW Ptprc guotie 1 138062861-138175708 bp (-) 138068401 Autosomal Recessive  decrease in B cells
decrease in B:T cells
decrease in B1a cells in B1 cells
decrease in CD4+ T cells
decrease in CD44 MFI in CD8
decrease in CD44 MFI in T cells
decrease in CD44+ CD4 T cells
decrease in CD44+ CD8 T cells
decrease in CD44+ T cells
decrease in CD8+ T cells
decrease in CD8+ T cells in CD3+ T cells
decrease in IgM+ B cells
decrease in naive CD8 T cells in CD8 T cells
decrease in T cells
immune system
increase in B1 cells
increase in CD4:CD8
increase in CD4+ T cells in CD3+ T cells
increase in neutrophils
increase in pDCs in CD11c+ cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
40 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
41 UTSW Rag1 huckle 2 101638282-101649501 bp (-) 101641223 Autosomal Recessive  decrease in B cells
decrease in CD4+ T cells
decrease in CD8+ T cells
immune system
42 UTSW Immp2l imp 12 41024090-41955588 bp (+) 41110847 Autosomal Recessive  decrease in body weight
growth/size
43 UTSW Naip5 inwood2 13 100211739-100246323 bp (-) 100223014 Autosomal Recessive  Nlrc4 inflammasome: low response
44 UTSW Naip5 inwood3 13 100211739-100246323 bp (-) 100221903 Autosomal Recessive  Nlrc4 inflammasome: low response
45 UTSW Tg ito 15 66670753-66850721 bp (+) 66766162 Autosomal Recessive  decrease in body weight
46 APN Muc2 kenny 7 141690340-141754693 bp (+) Autosomal Recessive  DSS: sensitive
immune system
47 UTSW Pappa2 Lilliputian2 1 158711727-158980490 bp (-) 158834918 Autosomal Semidominant  Circadian defect: decrease in final body weight
decrease in body weight
decrease in body weight- female
growth/size
48 UTSW Map3k14 lucky 11 103219762-103267472 bp (-) 103249558 Autosomal Recessive  decrease in B cells
hematopoietic system
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
49 UTSW Tlr6 m2sd1 5 64953106-64960048 bp (-) 6540276 Autosomal Recessive  immune system
TLR signaling defect: TNF production by macrophages
50 UTSW Tlr6 m2sd2 5 64953106-64960048 bp (-) 6540076 Autosomal Recessive  immune system
TLR signaling defect: TNF production by macrophages
51 UTSW Rorc macadamias 3 94372831-94397839 bp (+) 94397302 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
52 UTSW Rag1 maladaptive 2 101638282-101649501 bp (-) 101645647 Autosomal Recessive  decrease in B cells
decrease in CD4+ T cells
decrease in CD8+ T cells
hematopoietic system
immune system
RVFV susceptibility
53 UTSW
has photo
Tmprss6 masquerade 15 78439668-78468634 bp (-) 78468000 Autosomal Recessive  hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
54 UTSW Card11 May 5 140872999-141000596 bp (-) 140876495 Autosomal Dominant  T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
55 UTSW
has video
Myo6 mayday_circler 9 80165031-80311729 bp (+) 80246451 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
nervous system
56 UTSW Msh6 medea 17 87975050-87990883 bp (+) 87980223 Autosomal Recessive  decrease in total IgE level
increase in ratio of OVA-specific IgE over the total IgE
57 UTSW Ticam2 Messi 18 46559155-46574533 bp (-) 46560922 Autosomal Semidominant  TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to R848
58 UTSW
has photo
Gsdma3 Michelin 11 98626360-98638226 bp (+) 98637573 Autosomal Semidominant  skin/coat/nails
59 UTSW
has photo
Oca2 narwhal 7 56239760-56536517 bp (+) 56295498 Unknown  pigmentation
skin/coat/nails
60 UTSW Cd36 oblivious 5 17781690-17888959 bp (-) 17874966 Autosomal Recessive  immune system
TLR signaling defect: TNF production by macrophages
vision/eye
61 UTSW Adgre1 Onion 17 57358686-57483529 bp (+) 57402841 Unknown  decrease in macrophages
62 UTSW
has photo
Hps3 pam_gray 3 19995945-20035315 bp (-) 20017173 Autosomal Recessive  DSS: sensitive day 7
pigmentation
skin/coat/nails
63 UTSW
has photo
Adamts20 panda 15 94270163-94465418 bp (-) 94326699 Autosomal Recessive  pigmentation
skin/coat/nails
64 UTSW Nlrp3 Park2 11 59541568-59566955 bp (+) 59565128 Autosomal Semidominant  immune system
NALP3 inflammasome signaling defect
65 UTSW Nlrp3 Park7 11 59541568-59566955 bp (+) 59548010 Autosomal Semidominant  NLRP3 inflammasome: low response
66 UTSW
has photo
Adamts20 poliwag 15 94270163-94465418 bp (-) 94394622 Autosomal Recessive  pigmentation
skin/coat/nails
67 UTSW
has photo
Fgf5 porcupine 5 98254184-98277030 bp (+) 98254746 Autosomal Recessive  skin/coat/nails
68 UTSW Lep potbelly 6 29060220-29073877 bp (+) 29068972 Autosomal Recessive  adipose tissue
growth/size
increase in body weight
69 UTSW Rac2 potter 15 78559169-78572783 bp (-) 78570743 Autosomal Recessive  decrease in B cells
decrease in B1a cells in B1 cells
decrease in IgM+ B cells
increase in B1b cells in B1 cells
increase in neutrophils
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
70 UTSW Prf1 prime 10 61297836-61304263 bp (+) 61303722 Autosomal Recessive  MCMV susceptibility
71 UTSW Vldlr r26 19 27216484-27254231 bp (+) 27245654 Autosomal Recessive  vision/eye
72 UTSW Lyst robin 13 13590409-13777440 bp (+) 13648802 Unknown  pigmentation
skin/coat/nails
73 UTSW Socs2 samson 10 95385362-95417180 bp (-) 95413081 Autosomal Recessive  growth/size
increase in body weight
increase in body weight- male
74 UTSW Prkdc screamer 16 15637866-15842235 bp (+) 15831282 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 CD8+ T cells in CD3+ T cells
decrease in IgD MFI in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
decrease in T cells
increase in B1 cells
increase in CD4:CD8
increase in CD44 MFI in CD8
increase in CD44 MFI in T cells
increase in CD44+ CD4 T cells
increase in macrophages
increase in neutrophils
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
75 UTSW Grm7 shaky 6 110645581-111567230 bp (+) 111495791 Autosomal Recessive  behavior/neurological
nervous system
76 UTSW Ifnar1 shook 16 91485238-91507441 bp (+) 91499537 Autosomal Recessive  impaired response to dsDNA- type I IFN production by macrophages
77 UTSW Myo5a silver_decerebrate_2 9 75071015-75223688 bp (+) 75211127 Autosomal Recessive  behavior/neurological
lethality-postnatal
life span-post-weaning/aging
nervous system
pigmentation
skin/coat/nails
78 UTSW Slx4 slim 16 3979105-4003770 bp (-) 3990910 Autosomal Recessive  Circadian defect: decrease in final body weight
Circadian rhythm
decrease in body weight
decrease in body weight- female
growth/size
79 UTSW
has photo
Hps5 smoky 7 46760466-46796064 bp (-) 46769351 Autosomal Recessive  pigmentation
skin/coat/nails
80 UTSW Pik3ap1 sothe 19 41274218-41385070 bp (-) 41356683 Autosomal Recessive  T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
81 UTSW
has photo
Fgf5 splinter 5 98254184-98277030 bp (+) 98261987 Autosomal Recessive  skin/coat/nails
82 UTSW Impdh1 steve 6 29200434-29216364 bp (-) 29204632 Autosomal Recessive  eye: decrease in BM to ELM thickness
eye: decrease in BM to ILM thickness
eye: decrease in ONL thickness
vision/eye
83 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
84 UTSW Grid2 swagger 6 63255876-64668282 bp (+) 64395280 Autosomal Recessive  behavior/neurological
nervous system
85 UTSW
has photo
Kbtbd2 teeny 6 56777524-56797813 bp (-) 56780389 Autosomal Recessive  30 min GTT hyperglycemic
decrease in body weight
growth/size
liver/biliary system
86 UTSW
has photo
Atp7a Tigrou X 106027276-106124926 bp (+) 106088407 X-linked Dominant  growth/size
lethality-embryonic/perinatal
lethality-postnatal
pigmentation
skin/coat/nails
87 UTSW Tub troy 7 109010825-109034460 bp (+) 109020954 Autosomal Recessive  adipose tissue
Circadian defect: increase in circadian tau activity onset
growth/size
increase in body weight
88 UTSW Cd3e tumormouse 9 44998743-45009590 bp (-) 45006150 Autosomal Recessive  hematopoietic system
immune system
89 UTSW Clock uhr 5 76212177-76304548 bp (-) 76229554 Autosomal Recessive  increase in body weight
90 UTSW Mapk3 wabasha 7 126759601-126765819 bp (+) 126763512 Autosomal Recessive  NLRP3 inflammasome: low response
91 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
92 UTSW Lepr Well-upholstered 4 101717404-101815352 bp (+) 101772959 Autosomal Semidominant  adipose tissue
behavior/neurological
growth/size
homeostasis/metabolism
reproductive system
93 UTSW
has photo
Tmprss6 zorro 15 78439668-78468634 bp (-) 78464552 Autosomal Recessive  embryogenesis
growth/size
hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
[records 1 to 93 of 93]