Phenotypic Mutations

569 mutations affecting 273 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
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101 UTSW
has photo
Spink5 crusty2 18 43963235-44022501 bp (+) 43999935 Unknown immune system
skin/coat/nails
102 UTSW Tlr4 cruyff 4 66827584-66930284 bp (+) 66840326 Autosomal Recessive (3;31)
Autosomal Semidominant (3;16)
Macrophage necroptosis: low
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
103 UTSW Neurod1 cruz 2 79452521-79456751 bp (-) 79454595 Autosomal Recessive (5;21) behavior/neurological
Circadian defect: decrease in circadian active phase duration
Circadian defect: decrease in circadian tau activity onset
Circadian defect: decrease in tau chi squared periodogram
hearing/vestibular/ear
104 UTSW Ltbp3 csp 19 5740904-5758532 bp (+) 5747688 Unknown craniofacial
growth/size
limbs/digits/tail phenotype
skeleton phenotype
105 UTSW
has photo
Tmprss6 cubone 15 78439668-78468634 bp (-) 78446657 Autosomal Recessive (1;8) growth/size
skin/coat/nails
106 UTSW
has video
Slc26a4 cul-de-sac 12 31519827-31559969 bp (-) 31525568 Autosomal Recessive (2;9) behavior/neurological
hearing/vestibular/ear
107 UTSW
has photo
Rc3h1 curlyfry 1 160906418-160974978 bp (+) 160959399 Unknown (1;0)
Autosomal Recessive (3;16)

Autosomal Semidominant (4;17)
Body Weight - decreased
growth/size
limbs/digits/tail phenotype
108 UTSW Themis currant 10 28668360-28883818 bp (+) 28782011 Autosomal Recessive (12;75) CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - decreased
CD44 MFI in CD4 - increased
CD44 MFI in CD8 - increased
CD8+ T cells in CD3+ T cells - increased
T cells - decreased
109 UTSW
has video
Hcn2 curveball 10 79716634-79736108 bp (+) 79724786 Autosomal Recessive (7;38) behavior/neurological
Body Weight - decreased
CD4:CD8 - increased
CD4+ T cells in CD3+ T cells - increased
CD8+ T cells in CD3+ T cells - decreased
110 UTSW Nek7 Cuties 1 138482875-138620141 bp (-) 138544242 Autosomal Semidominant (2;10) NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
111 UTSW Atp7b daffodil 8 21992785-22060305 bp (-) 21998266 Unknown (1;0) liver/biliary system
MTT Value of PECs - decreased
112 UTSW
has photo
Sox10 Dalmatian 15 79154913-79164490 bp (-) 79163324 Unknown pigmentation
skin/coat/nails
113 UTSW Diaph1 damselfly 18 37843601-37935476 bp (-) 37897550 Autosomal Recessive (17;176) 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
114 UTSW
has video
Scn8a dan 15 100870683-101045929 bp (+) 101035624 Autosomal Recessive (1;3) limbs/digits/tail phenotype
115 UTSW Myd88 Dani_alves 9 119335934-119341411 bp (-) 119337823 Autosomal Semidominant (4;17) TLR signaling defect: hyposensitivity to CpG
TLR signaling defect: hyposensitivity to R848
116 UTSW
has photo
Kdelr1 daniel_gray 7 45872772-45883731 bp (+) 45881621 Unknown B cells - decreased
CD44+ CD4 T cells - increased
CD44+ CD8 T cells - increased
CD8+ T cells - decreased
NK T cells - decreased
117 UTSW Tap2 date 17 34203527-34216321 bp (+) 34212354 Autosomal Recessive (6;61) B:T cells - increased
CD4+ T cells in CD3+ T cells - increased
CD44 MFI in CD8 - increased
CD8+ T cells - decreased
CD8+ T cells in CD3+ T cells - decreased
118 UTSW Tap2 date2 17 34203527-34216321 bp (+) 34214032 Autosomal Recessive (16;242)
Autosomal Semidominant (1;4)
CD4:CD8 - increased
CD4+ T cells - increased
CD4+ T cells in CD3+ T cells - increased
CD44 MFI in CD4 - decreased
CD44 MFI in CD8 - increased
CD44+ CD8 T cells - decreased
CD8+ T cells - decreased
CD8+ T cells in CD3+ T cells - decreased
central memory CD8 T cells in CD8 T cells - increased
CTL killing dominant epitope - decreased
effector memory CD4 T cells in CD4 T cells - decreased
naive CD4 T cells in CD4 T cells - increased
naive CD8 T cells in CD8 T cells - decreased
NK cells - increased
119 UTSW
has photo
Spag9 dazzle 11 93996091-94126085 bp (+) 94093624 Unknown skin/coat/nails
120 UTSW Card11 Dealer 5 140872999-141000596 bp (-) 140885877 Autosomal Semidominant (3;15) 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
121 UTSW Themis death_valley 10 28668360-28883818 bp (+) 28668727 Autosomal Recessive (5;41)
Autosomal Semidominant (5;25)
B:T cells - increased
CD4:CD8 - decreased
CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - decreased
CD44 MFI in CD4 - 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
naive CD4 T cells in CD4 T cells - decreased
T cells - decreased
122 UTSW Cdh23 dee_dee 10 60302748-60696490 bp (-) 60308056 Autosomal Recessive (1;4) hearing/vestibular/ear
123 UTSW
has video
Rorb dee-no 19 18930605-19111196 bp (-) 18955053 Autosomal Recessive (8;34) behavior/neurological
limbs/digits/tail phenotype
nervous system
124 UTSW
has photo
Mc1r deer 8 123407107-123410744 bp (+) 123407958 Unknown pigmentation
skin/coat/nails
125 UTSW Fbxl3 delargo 14 103080239-103099566 bp (-) 103089418 Autosomal Recessive (4;46)
Autosomal Semidominant (1;14)
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
126 UTSW Rims4 demure 2 163859751-163918683 bp (-) 163864120 Autosomal Recessive (3;14) Body Weight - decreased
growth/size
127 UTSW Dock2 denali 11 34226815-34783892 bp (-) 34229472 Autosomal Recessive (2;25)
Autosomal Semidominant (5;25)
B cells - decreased
IgD+ B cells - decreased
IgM+ B cells - decreased
macrophages - increased
neutrophils - increased
NK cells - increased
total IgE level - increased
128 UTSW Dock2 dew 11 34226815-34783892 bp (-) 34248636 Unknown (1;0) CD4+ T cells - decreased
CD8+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
129 UTSW Sell dim_sum 1 164061982-164084181 bp (+) 164066201 Autosomal Dominant (1;4)
Autosomal Recessive (7;45)
naive CD4 T cells in CD4 T cells - decreased
130 UTSW Sell dim_sum2 1 164061982-164084181 bp (+) 164065661 Autosomal Recessive (4;54) naive CD4 T cells in CD4 T cells - decreased
naive CD8 T cells in CD8 T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
131 UTSW Rims4 diminutive 2 163859751-163918683 bp (-) 163864865 Autosomal Recessive (2;13) Body Weight - decreased
growth/size
132 UTSW Apbb2 Dionysis 5 66298861-66618828 bp (-) 66452250 Autosomal Semidominant (1;4) 30 min GTT hyperglycemic
133 UTSW
has video
Slc26a4 discobolus 12 31519827-31559969 bp (-) 31540533 Autosomal Recessive (2;14) behavior/neurological
hearing/vestibular/ear
134 UTSW Tnf Dome 17 35199381-35202007 bp (-) 35201674 Unknown (4;0) TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
135 UTSW Stat1 domino 1 52119440-52161865 bp (+) 52140588 Unknown (3;0) immune system
MCMV proliferation in macrophages - increased
MCMV susceptibility
NK cell response - decreased
response to injected CpG DNA - decreased
RVFV susceptibility
136 UTSW Tlr4 don_knotts 4 66827584-66930284 bp (+) 66841172 Unknown (1;0)
Autosomal Recessive (4;20)
B cells - decreased
B220 MFI in B cells - decreased
IgD+ B cells - decreased
IgM+ B cells - decreased
TLR signaling defect: hyposensitivity to LPS
137 UTSW
has photohas video
Grm1 donald 10 10686059-11082356 bp (-) 10741508 Autosomal Recessive (1;2) behavior/neurological
growth/size
life span-post-weaning/aging
nervous system
138 UTSW Slc6a3 dopey 13 73536747-73578672 bp (+) 73560959 Autosomal Recessive (3;16) Body Weight - decreased
Body Weight (Male) - decreased
139 UTSW Slc6a3 Dopey2 13 73536747-73578672 bp (+) 73544817 Autosomal Semidominant (1;4) Body Weight - decreased
140 UTSW
has photo
Hps5 dorian_gray 7 46760466-46796064 bp (-) 46784145 Unknown pigmentation
skin/coat/nails
141 UTSW
has photo
Oca2 draco1 7 56239760-56536517 bp (+) 56423352 Autosomal Recessive (1;4) pigmentation
skin/coat/nails
142 UTSW
has photo
Slc45a2 draco2 15 11000721-11029233 bp (+) 11000817 Autosomal Semidominant (1;2) pigmentation
skin/coat/nails
143 UTSW Slc5a2 dregs 7 128265657-128272430 bp (+) 128267505 Autosomal Recessive (3;24)
Autosomal Semidominant (2;8)
Body Weight - increased
DSS: sensitive day 10
TLR signaling defect: hypersensitivity to CpG + IFNg
144 UTSW Agtpbp1 drunk 13 59449537-59585227 bp (-) 59512323 Unknown behavior/neurological
nervous system
145 UTSW
has photo
Msx2 duke 13 53466884-53473074 bp (-) 53468395 Autosomal Recessive (1;3) skin/coat/nails
vision/eye
146 UTSW Socs7 Dunn 11 97362551-97398542 bp (+) 97373124 Autosomal Dominant (2;8) Body Weight - decreased
147 UTSW Slc6a6 durango 6 91684067-91759063 bp (+) 91723471 Autosomal Recessive (3;40)
Autosomal Semidominant (1;4)
eye: decrease in BM to ILM thickness
vision/eye
148 UTSW Klc1 dwarf 12 111758849-111807844 bp (+) 111795603 Autosomal Recessive (2;13)
Autosomal Semidominant (1;4)
Body Weight - decreased
149 UTSW Entpd5 eatsy 12 84373875-84409029 bp (-) 84382295 Autosomal Recessive (9;41)
Autosomal Semidominant (1;4)
125-03 Response - increased
DSS: sensitive
DSS: sensitive day 10
DSS: sensitive day 7
growth/size
IgD MFI in B cells - decreased
phagocytosis in PECs - decreased
150 UTSW Ppp3cb Eden_express 14 20499364-20546573 bp (-) 20528195 Autosomal Dominant (1;6)
Autosomal Recessive (4;39)

Autosomal Semidominant (4;18)
B:T cells - increased
CD44 MFI in CD4 - increased
CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
CD8+ T cells - decreased
central memory CD4 T cells in CD4 T cells - increased
central memory CD8 T cells in CD8 T cells - increased
naive CD8 T cells in CD8 T cells - decreased
T cells - decreased
151 UTSW
has photo
Npr3 eel 15 11839896-11905674 bp (-) 11858647 Unknown growth/size
limbs/digits/tail phenotype
skeleton phenotype
152 APN Muc2 Eeyore 7 141690340-141754693 bp (+) 141693356 Unknown DSS: sensitive
immune system
153 UTSW
has photo
Tmprss6 ekans 15 78439668-78468634 bp (-) 78459427 Autosomal Recessive (2;13)
Autosomal Semidominant (1;4)
skin/coat/nails
154 UTSW Slfn2 elektra 11 83065112-83070678 bp (+) 83069600 Unknown (2;0) CD8+ T cells - decreased
CTL killing - decreased
hematopoietic system
immune system
MCMV susceptibility
NK T cells - decreased
155 UTSW Slfn2 elektra2 11 83065112-83070678 bp (+) 83069564 Autosomal Recessive (1;5) T-dependent humoral response defect- decreased antibody response to rSFV
156 UTSW Cd79a elementary 7 24897381-24902197 bp (+) 24899262 Autosomal Recessive (2;13)
Autosomal Semidominant (1;5)
B1b cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
157 UTSW Atp11c emptyhive X 60223290-60592698 bp (-) 60269987 Unknown B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
reproductive system
158 UTSW Irf1 Endeka 11 53770014-53778374 bp (+) 53772891 Unknown (2;0) CD8+ T cells - decreased
hematopoietic system
immune system
MCMV susceptibility
NK cell response - decreased
NK cells - decreased
NK T cells - decreased
TLR signaling defect: type I IFN production by macrophages
159 UTSW Pparg energy 6 115361221-115490401 bp (+) 115451044 Unknown (3;0) Body Weight - decreased
growth/size
160 UTSW Ern2 ernie 7 122169893-122186216 bp (-) 122171661 Autosomal Recessive (2;19) DSS: sensitive day 10
DSS: sensitive day 7
161 UTSW Ern2 Ernie2 7 122169893-122186216 bp (-) 122180862 Autosomal Dominant (1;1)
Autosomal Semidominant (1;4)
DSS: sensitive day 10
162 UTSW Ern2 ernie3 7 122169893-122186216 bp (-) 122173819 Autosomal Recessive (2;6) DSS: sensitive day 10
DSS: sensitive day 7
163 UTSW Ppp3cb everglades 14 20499364-20546573 bp (-) 20530948 Autosomal Recessive (10;61)
Autosomal Semidominant (3;15)
B:T cells - increased
CD4+ T cells - decreased
CD44 MFI in CD8 - increased
CD44 MFI in T cells - 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
naive CD8 T cells in CD8 T cells - decreased
NK cells - increased
OVA-specific IgE - increased
T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
164 UTSW Adgre1 F480 17 57358686-57483529 bp (+) 57444063 Unknown immune system
normal phenotype
165 UTSW Ptpn6 farfalla_notturna 6 124720707-124738714 bp (-) 124732435 Autosomal Recessive (7;54)
Autosomal Semidominant (4;28)
B1 cells - increased
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
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
166 UTSW
has photo
Alms1 fatty 6 85587531-85702753 bp (+) 85627934 Autosomal Dominant (1;1)
Autosomal Recessive (16;118)

Autosomal Semidominant (3;10)
30 min GTT hyperglycemic
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
fasting hyperglycemia
fasting hyperglycemia (female)
fasting hyperinsulinemia
growth/size
high insulin levels after a 30-minute glucose challenge
167 UTSW Hcfc2 feckless 10 82696160-82742428 bp (+) 82712061 Unknown (2;0) immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
168 UTSW Slc15a4 feeble 5 127595664-127632897 bp (-) 127608770 Unknown (1;0) response to injected CpG DNA - decreased
TLR signaling defect: type I IFN production by pDC
169 UTSW Rab38 fenrir 7 88430273-88491466 bp (+) 88450541 Autosomal Recessive (1;4)
Autosomal Semidominant (1;5)
pigmentation
170 UTSW Nfkb1 Finlay 3 135584655-135691547 bp (-) 135595053 Unknown (1;0)
Autosomal Recessive (1;3)

Autosomal Semidominant (2;8)
Nlrc4 inflammasome: low response
NLRP3 inflammasome: low response
T-dependent humoral response defect- decreased antibody response to rSFV
171 UTSW
has photo
Scd1 flake 19 44394451-44407709 bp (-) 44400330 Unknown endocrine/exocrine gland
immune system
skin/coat/nails
172 UTSW Map3k8 Flojo 18 4331327-4353015 bp (-) 4339548 Autosomal Semidominant (2;10) TLR signaling defect: hyposensitivity to LPS
173 UTSW
has photo
Lepr fluffy 4 101717404-101815352 bp (+) 101792023 Autosomal Recessive (5;31) Body Weight - increased
growth/size
Rotarod time - decreased
174 UTSW Camk2a frantic 18 60925618-60988152 bp (+) 60963928 Autosomal Recessive (1;9) Novelty: increase in total activity
175 UTSW Dock2 frazz 11 34226815-34783892 bp (-) 34248572 Unknown (2;0) B cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
176 UTSW
has photo
Tshr freckle 12 91400994-91540509 bp (+) 91538226 Unknown (1;0)
Autosomal Recessive (2;10)
endocrine/exocrine gland
growth/size
177 UTSW Dock2 frizz 11 34226815-34783892 bp (-) 34258184 Unknown (1;0) B cells - decreased
CD4+ T cells - decreased
CD8+ T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
178 UTSW Epha4 frog 1 77367189-77515088 bp (-) 77481076 Unknown behavior/neurological
immune system
nervous system
179 UTSW Tnfsf13b Frozen 8 10006843-10035441 bp (+) 10031661 Autosomal Recessive (6;46)
Autosomal Semidominant (9;97)
B cells - decreased
CD11c+ DCs - increased
CD8+ T cells - increased
IgD+ B cells - decreased
IgM+ B cells - decreased
macrophages - increased
neutrophils - increased
T cells - increased
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
180 UTSW Ptprc fuchsia 1 138062861-138175708 bp (-) 138101041 Autosomal Recessive (17;235)
Autosomal Semidominant (1;17)
B cells - decreased
B:T cells - decreased
B1 cells - increased
B220 MFI in B cells - decreased
CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - increased
CD44 MFI in CD4 - increased
CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
CD8+ T cells - decreased
CD8+ T cells in CD3+ T cells - decreased
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
T cells - decreased
181 UTSW Slc45a2 galak 15 11000721-11029233 bp (+) 11012667 Unknown pigmentation
skin/coat/nails
182 UTSW
has photo
Hps3 gandalf 3 19995945-20035315 bp (-) 20012796 Autosomal Recessive (1;2) pigmentation
skin/coat/nails
183 UTSW Cd22 gansu 7 30865402-30880342 bp (-) 30870105 Autosomal Recessive (7;42) B:T cells - decreased
B1a cells - increased
B2 cells - decreased
IgD+ B cells - decreased
IgM+ B cells - decreased
184 UTSW Tap2 ganymede 17 34203527-34216321 bp (+) Unknown (1;0) CD8+ T cells - decreased
CTL killing - decreased
immune system
NK cell response - decreased
185 UTSW
has photo
a garfield 2 154791402-155051012 bp (+) Unknown pigmentation
skin/coat/nails
186 UTSW Irf8 Gemini 8 120736358-120756694 bp (+) 120743883 Unknown (2;0) CD8+ T cells - decreased
cellular phenotype
immune system
MCMV susceptibility
response to injected CpG DNA - decreased
187 UTSW
has photo
Rab27a geodude 9 73044854-73098501 bp (+) 73084981 Autosomal Recessive (2;5) MCMV susceptibility
pigmentation
skin/coat/nails
188 UTSW
has photo
Tyr ghost 7 87427405-87493411 bp (-) 87472495 Unknown pigmentation
skin/coat/nails
189 UTSW Lepr giant 4 101717404-101815352 bp (+) 101765152 Autosomal Recessive (9;61) 30 min GTT hyperglycemic
Body Weight - increased
NK killing - decreased
OVA-specific IgE - increased
total IgE level - increased
190 UTSW
has photo
Ksr2 gigante 5 117414000-117775003 bp (+) 117671449 Unknown (1;0)
Autosomal Recessive (4;18)
adipose tissue
growth/size
191 UTSW Wnt7a gimpy 6 91363981-91411363 bp (-) 91365884 Unknown limbs/digits/tail phenotype
reproductive system
192 UTSW Trpv5 gingame 6 41652173-41680769 bp (-) 41670961 Unknown (1;0) DSS: sensitive
DSS: sensitive day 7
immune system
193 UTSW Edaradd gizmo 13 12471209-12520450 bp (-) Unknown craniofacial
limbs/digits/tail phenotype
skin/coat/nails
194 UTSW Pax5 glacier 4 44531145-44710487 bp (-) 44679494 Autosomal Recessive (2;21)
Autosomal Semidominant (1;7)
B1 cells - increased
B1b cells in B1 cells - decreased
195 UTSW Pax5 glacier2 4 44531145-44710487 bp (-) 44710407 Autosomal Recessive (13;215)
Autosomal Semidominant (2;32)
B cells - decreased
B:T cells - decreased
B1 cells - decreased
B220 MFI in B 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
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
196 UTSW
has photo
Ghr gnome 15 3317760-3583492 bp (-) 3388646 Autosomal Recessive (11;58) Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
post-MCMV macrophages - increased
post-MCMV naive CD4 T cells in CD4 T cells - decreased
post-MCMV naive CD8 T cells in CD8 T cells - decreased
197 UTSW Map3k8 gnostic_gospel 18 4331327-4353015 bp (-) 4333965 Unknown (1;0)
Autosomal Dominant (1;3)

Autosomal Recessive (5;24)


Autosomal Semidominant (4;16)
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
198 UTSW
has video
Dst gobble 1 33908225-34308661 bp (+) 34165155 Autosomal Dominant (1;1)
Autosomal Recessive (5;19)
behavior/neurological
growth/size
199 UTSW Itk goodnow 11 46325150-46389515 bp (-) 46338099 Autosomal Recessive (19;163) B cells - increased
B:T cells - increased
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+ CD8 T cells - increased
CD44+ T cells - increased
CD8+ T cells - decreased
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
IgD+ B cells - increased
IgM+ B cells - increased
naive CD4 T cells in CD4 T cells - decreased
naive CD8 T cells in CD8 T cells - decreased
T cells - decreased
200 UTSW
has photo
Alx4 goofy 2 93642384-93681339 bp (+) 93675369 Unknown craniofacial
limbs/digits/tail phenotype
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