Phenotypic Mutations

506 mutations affecting 266 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
|< first << previous [records 101 to 200 of 506] next >> last >| 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?
101 UTSW Nek7 Cuties 1 138482875-138620141 bp (-) 138544242 Autosomal Semidominant  NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
102 UTSW Atp7b daffodil 8 21992785-22060305 bp (-) 21998266 Unknown  liver/biliary system
MTT value of PECs: decreased
103 UTSW
has photo
Sox10 Dalmatian 15 79154913-79164490 bp (-) 79163324 Autosomal Dominant  pigmentation
skin/coat/nails
104 UTSW
has video
Scn8a dan 15 100870683-101045929 bp (+) 101035624 Autosomal Recessive  limbs/digits/tail phenotype
105 UTSW Myd88 Dani_alves 9 119335934-119341411 bp (-) 119337823 Autosomal Semidominant  TLR signaling defect: hyposensitivity to CpG
TLR signaling defect: hyposensitivity to R848
106 UTSW
has photo
Kdelr1 daniel_gray 7 45872772-45883731 bp (+) 45881621 Autosomal Recessive  decrease in B cells
decrease in CD8+ T cells
decrease in NK T cells
increase in CD44+ CD4 T cells
increase in CD44+ CD8 T cells
107 UTSW Tap2 date 17 34203527-34216321 bp (+) 34212354 Autosomal Recessive  decrease in CD8+ T cells
decrease in CD8+ T cells in CD3+ T cells
increase in B:T cells
increase in CD4+ T cells in CD3+ T cells
increase in CD44 MFI in CD8
108 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
109 UTSW
has photo
Spag9 dazzle 11 93996091-94126085 bp (+) 94093624 Autosomal Recessive  skin/coat/nails
110 UTSW Themis death_valley 10 28668360-28883818 bp (+) 28668727 Autosomal Recessive  decrease in CD4:CD8
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 T cells
increase in B:T cells
increase in CD44 MFI in CD4
increase in CD44 MFI in T cells
increase in CD8+ T cells in CD3+ T cells
increase in effector memory CD4 T cells in CD4 T cells
111 UTSW Cdh23 dee_dee 10 60302748-60696490 bp (-) 60308056 Autosomal Recessive  hearing/vestibular/ear
112 UTSW
has video
Rorb dee-no 19 18930605-19111196 bp (-) 18955053 Autosomal Recessive  behavior/neurological
limbs/digits/tail phenotype
nervous system
113 UTSW
has photo
Mc1r deer 8 123407107-123410744 bp (+) 123407958 Unknown  pigmentation
skin/coat/nails
114 UTSW Fbxl3 delargo 14 103080239-103099566 bp (-) 103089418 Autosomal Recessive  Circadian defect: decrease in circadian active phase duration
Circadian defect: decrease in circadian tau activity onset
Circadian defect: increase in circadian tau DD by eye
Circadian defect: increase in tau chi squared periodogram
Circadian rhythm
fasting hyperglycemia
115 UTSW Rims4 demure 2 163859751-163918683 bp (-) 163864120 Autosomal Recessive  decrease in body weight
growth/size
116 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
117 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
118 UTSW Sell dim_sum 1 164061982-164084181 bp (+) 164066201 Autosomal Recessive  decrease in naive CD4 T cells in CD4 T cells
119 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
120 UTSW Rims4 diminutive 2 163859751-163918683 bp (-) 163864865 Autosomal Recessive  decrease in body weight
growth/size
121 UTSW
has video
Slc26a4 discobolus 12 31519827-31559969 bp (-) 31540533 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
122 UTSW Tnf Dome 17 35199381-35202007 bp (-) 35201674 Autosomal Dominant  TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
123 UTSW Stat1 domino 1 52119440-52161865 bp (+) 52140588 Autosomal Recessive  decrease in NK cell response
decrease in response to injected CpG DNA
immune system
MCMV proliferation in macrophages- increased
MCMV susceptibility
RVFV susceptibility
124 UTSW Tlr4 don_knotts 4 66827584-66930284 bp (+) 66841172 Autosomal Recessive  decrease in B cells
decrease in B220 MFI in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
TLR signaling defect: hyposensitivity to LPS
125 UTSW
has photohas video
Grm1 donald 10 10686059-11082356 bp (-) 10741508 Autosomal Recessive  behavior/neurological
growth/size
life span-post-weaning/aging
nervous system
126 UTSW
has photo
Hps5 dorian_gray 7 46760466-46796064 bp (-) 46784145 Autosomal Recessive  pigmentation
skin/coat/nails
127 UTSW
has photo
Oca2 draco1 7 56239760-56536517 bp (+) 56423352 Autosomal Recessive  pigmentation
skin/coat/nails
128 UTSW
has photo
Slc45a2 draco2 15 11000721-11029233 bp (+) 11000817 Autosomal Recessive  pigmentation
skin/coat/nails
129 UTSW Agtpbp1 drunk 13 59449537-59585227 bp (-) 59512323 Autosomal Recessive  behavior/neurological
nervous system
130 UTSW
has photo
Msx2 duke 13 53466884-53473074 bp (-) 53468395 Autosomal Recessive  skin/coat/nails
vision/eye
131 UTSW Slc6a6 durango 6 91684067-91759063 bp (+) 91723471 Autosomal Recessive  eye: decrease in BM to ILM thickness
vision/eye
132 UTSW Klc1 dwarf 12 111758849-111807844 bp (+) 111795603 Autosomal Recessive  decrease in body weight
133 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
134 UTSW
has photo
Npr3 eel 15 11839896-11905674 bp (-) 11858647 Autosomal Recessive  growth/size
limbs/digits/tail phenotype
skeleton phenotype
135 APN Muc2 Eeyore 7 141690340-141754693 bp (+) 141693356 Autosomal Semidominant  DSS: sensitive
immune system
136 UTSW
has photo
Tmprss6 ekans 15 78439668-78468634 bp (-) 78459427 Autosomal Recessive  skin/coat/nails
137 UTSW Slfn2 elektra 11 83065112-83070678 bp (+) 83069600 Autosomal Recessive  decrease in CD8 response
decrease in CD8+ T cells
decrease in NK T cells
hematopoietic system
immune system
MCMV susceptibility
138 UTSW Slfn2 elektra2 11 83065112-83070678 bp (+) 83069564 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
139 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
140 UTSW Irf1 Endeka 11 53770014-53778374 bp (+) 53772891 Autosomal Semidominant  decrease in CD8+ T cells
decrease in NK cell response
decrease in NK cells
decrease in NK T cells
hematopoietic system
immune system
MCMV susceptibility
TLR signaling defect: type I IFN production by macrophages
141 UTSW Ern2 ernie 7 122169893-122186216 bp (-) 122171661 Autosomal Recessive  DSS: sensitive day 10
DSS: sensitive day 7
142 UTSW Ern2 Ernie2 7 122169893-122186216 bp (-) 122180862 Autosomal Semidominant  DSS: sensitive day 10
143 UTSW Ern2 ernie3 7 122169893-122186216 bp (-) 122173819 Autosomal Recessive  DSS: sensitive day 10
DSS: sensitive day 7
144 UTSW Ppp3cb everglades 14 20499364-20546573 bp (-) 20530948 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
decrease in naive CD8 T cells in CD8 T cells
decrease in T cells
increase in B:T cells
increase in CD44 MFI in CD8
increase in CD44 MFI in T cells
increase in central memory CD8 T cells in CD8 T cells
increase in effector memory CD8 T cells in CD8 T cells
increase in NK cells
increase in OVA-specific IgE
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
145 UTSW Adgre1 F480 17 57358686-57483529 bp (+) 57444063 Autosomal Semidominant  immune system
normal phenotype
146 UTSW Slc15a4 feeble 5 127595664-127632897 bp (-) 127608770 Autosomal Recessive  decrease in response to injected CpG DNA
TLR signaling defect: type I IFN production by pDC
147 UTSW Rab38 fenrir 7 88430273-88491466 bp (+) 88450541 Autosomal Recessive  pigmentation
148 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
149 UTSW
has photo
Scd1 flake 19 44394451-44407709 bp (-) 44400330 Autosomal Recessive  endocrine/exocrine gland
immune system
skin/coat/nails
150 UTSW Camk2a frantic 18 60925618-60988152 bp (+) 60963928 Autosomal Recessive  Novelty: increase in total activity
151 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
152 UTSW
has photo
Tshr freckle 12 91400994-91540509 bp (+) 91538226 Autosomal Recessive  endocrine/exocrine gland
growth/size
153 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
154 UTSW Epha4 frog 1 77367189-77515088 bp (-) 77481076 Autosomal Recessive  behavior/neurological
immune system
nervous system
155 UTSW Tnfsf13b Frozen 8 10006843-10035441 bp (+) 10031661 Autosomal Semidominant  decrease in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in CD11c+ DCs
increase in CD8+ T cells
increase in macrophages
increase in neutrophils
increase in T 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
156 UTSW Slc45a2 galak 15 11000721-11029233 bp (+) 11012667 Autosomal Recessive  pigmentation
skin/coat/nails
157 UTSW
has photo
Hps3 gandalf 3 19995945-20035315 bp (-) 20012796 Autosomal Recessive  pigmentation
skin/coat/nails
158 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
159 UTSW Tap2 ganymede 17 34203527-34216321 bp (+) Autosomal Recessive  decrease in CD8 response
decrease in CD8+ T cells
decrease in NK cell response
immune system
160 UTSW
has photo
a garfield 2 154791402-155051012 bp (+) Unknown  pigmentation
skin/coat/nails
161 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
162 UTSW
has photo
Rab27a geodude 9 73044854-73098501 bp (+) 73084981 Autosomal Recessive  MCMV susceptibility
pigmentation
skin/coat/nails
163 UTSW
has photo
Tyr ghost 7 87427405-87493411 bp (-) 87472495 Autosomal Recessive  pigmentation
skin/coat/nails
164 UTSW Lepr giant 4 101717404-101815352 bp (+) 101765152 Autosomal Recessive  30 min GTT hyperglycemic
decreased NK killing
increase in body weight
increase in OVA-specific IgE
increase in total IgE level
165 UTSW
has photo
Ksr2 gigante 5 117414000-117775003 bp (+) 117671449 Autosomal Recessive  adipose tissue
growth/size
166 UTSW Wnt7a gimpy 6 91363981-91411363 bp (-) 91365884 Autosomal Recessive  limbs/digits/tail phenotype
reproductive system
167 UTSW Trpv5 gingame 6 41652173-41680769 bp (-) 41670961 Autosomal Recessive  DSS: sensitive
DSS: sensitive day 7
immune system
168 UTSW Edaradd gizmo 13 12471209-12520450 bp (-) Autosomal Recessive  craniofacial
limbs/digits/tail phenotype
skin/coat/nails
169 UTSW Pax5 glacier 4 44531145-44710487 bp (-) 44679494 Autosomal Recessive  decrease in B1b cells in B1 cells
increase in B1 cells
170 UTSW
has photo
Ghr gnome 15 3317760-3583492 bp (-) 3388646 Autosomal Recessive  decrease in body weight
decrease in body weight- female
decrease in body weight- male
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 macrophages
171 UTSW Map3k8 gnostic_gospel 18 4331327-4353015 bp (-) 4333965 Autosomal Recessive  immune system
TLR signaling defect: hyposensitivity to CpG
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to PAM3CSK4
TLR signaling defect: hyposensitivity to poly I:C
172 UTSW
has video
Dst gobble 1 33908225-34308661 bp (+) 34165155 Autosomal Recessive  behavior/neurological
growth/size
173 UTSW
has photo
Alx4 goofy 2 93642384-93681339 bp (+) 93675369 Autosomal Recessive  craniofacial
limbs/digits/tail phenotype
174 UTSW Gck Grahamcracker 11 5900820-5950081 bp (-) 5902165 Autosomal Semidominant  30 min GTT hyperglycemic
175 UTSW Pik3cd grand_tetons 4 149649168-149702571 bp (-) 149652699 Autosomal Recessive  decrease in B1 cells
decrease in B1a cells in B1 cells
decrease in IgG1 response to a Cysteine Protease (Papain)
dsDNA induced type I IFN production: increased
increase in OVA-specific IgE
increase in ratio of OVA-specific IgE over the total IgE
MCMV proliferation in macrophages- increased
post-MCMV decrease in B1a cells
post-MCMV decrease in B1a cells in B1 cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
176 UTSW
has video
Rorb grasshopper 19 18930605-19111196 bp (-) 19110557 Autosomal Recessive  behavior/neurological
nervous system
177 UTSW Slc45a2 grey_goose 15 11000721-11029233 bp (+) 11002981 Autosomal Recessive  pigmentation
skin/coat/nails
178 UTSW Lyst grey_wolf 13 13590409-13777440 bp (+) Autosomal Recessive  decrease in NK cell response
hematopoietic system
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
179 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
180 UTSW Tlr4 Guardiola 4 66827584-66930284 bp (+) 66839303 Autosomal Semidominant  Nlrc4 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
181 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
182 UTSW
has photo
Ednrb gus-gus 14 103814625-103844173 bp (-) 103820013 Autosomal Recessive  lethality-postnatal
pigmentation
skin/coat/nails
183 UTSW
has photo
Mc4r halloween 18 66857715-66860472 bp (-) 66859821 Autosomal Recessive  adipose tissue
growth/size
increase in body weight
184 UTSW Fnip1 hamel 11 54438199-54518235 bp (+) 54480685 Autosomal Recessive  hematopoietic competition - disadvantage
hematopoietic system
homeostasis/metabolism
muscle
185 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
186 UTSW Ank1 Hema6 8 22974844-23150497 bp (+) 23097638 Autosomal Dominant  anemia
187 UTSW Cacna2d2 hera 9 107399612-107529343 bp (+) 107513280 Autosomal Recessive  growth/size
188 UTSW Irf4 honey 13 30749226-30766927 bp (+) 30751751 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
189 UTSW Irf4 Honey2 13 30749226-30766927 bp (+) 30761490 Autosomal Semidominant  increase in B1 cells
increase in IgM MFI 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
190 UTSW Rel Horus 11 23741514-23770970 bp (-) 23753215 Autosomal Semidominant  decrease in B1 cells
decrease in naive CD4 T cells in CD4 T cells
decrease in naive CD8 T cells in CD8 T cells
decrease in total IgE level
increase in CD4+ T cells
increase in CD44 MFI in T cells
increase in CD44+ CD4 T cells
increase in CD44+ T cells
increase in effector memory CD4 T cells in CD4 T cells
increase in effector memory CD8 T cells 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- increased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
191 UTSW Irf7 Houstonian 7 141262706-141266481 bp (-) 141264022 Autosomal Semidominant  dsDNA induced type I IFN production: decreased
192 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
193 UTSW Traf3 Hulk 12 111166370-111267153 bp (+) 111261576 Unknown  decrease in B 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
194 UTSW Lck iconoclast 4 129548349-129573641 bp (-) 129555604 Autosomal Recessive  decrease in CD8 response
decrease in CD8+ T cells
hematopoietic system
immune system
195 UTSW Immp2l imp 12 41024090-41955588 bp (+) 41110847 Autosomal Recessive  decrease in body weight
growth/size
196 UTSW Ikbkb Impaired 8 22659212-22706589 bp (-) 22666020 Autosomal Semidominant  MCMV susceptibility
post-MCMV decrease in B1a cells in B1 cells
post-MCMV decrease in CD8+ T cells
post-MCMV increase in B1b cells in B1 cells
post-MCMV increase in CD4:CD8
197 UTSW Irf7 inept 7 141262706-141266481 bp (-) 141265140 Autosomal Recessive  decrease in response to injected CpG DNA
TLR signaling defect: type I IFN production by pDC
198 UTSW Kbtbd2 infinitesimal 6 56777524-56797813 bp (-) 56779090 Autosomal Recessive  30 min GTT hyperglycemic
growth/size
199 UTSW Tlr6 insouciant 5 64953106-64960048 bp (-) 64954583 Autosomal Recessive  immune system
TLR signaling defect: TNF production by macrophages
200 UTSW Itgam invisible 7 128062640-128128160 bp (+) 128070703 Autosomal Recessive  decrease in CD11b+ DCs in CD11c+ cells
decrease in macrophages
decrease in neutrophils
increase in CD8a+ DCs in CD11c+ cells
increase in pDCs in CD11c+ cells
|< first << previous [records 101 to 200 of 506] next >> last >|