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 Sgk3 woolly 1 9798107-9900845 bp (+) 9886104 Unknown skin/coat/nails
2 UTSW
has video
Dst tinsel 1 33908225-34308661 bp (+) 34164167 Unknown (2)
Autosomal Recessive (3)
behavior/neurological
3 UTSW
has video
Dst gobble 1 33908225-34308661 bp (+) 34165155 Autosomal Dominant (1)
Autosomal Recessive (5)
behavior/neurological
growth/size
4 UTSW Dst phelps 1 33908225-34308661 bp (+) 34223795 Autosomal Semidominant (1) growth/size
5 UTSW Zap70 waterfowl 1 36761798-36782818 bp (+) 36770811 Unknown (8) B:T cells - increased
CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - decreased
CD8+ T cells - decreased
T cells - decreased
6 UTSW Zap70 wanna 1 36761798-36782818 bp (+) 36770983 Unknown CD4+ T cells - decreased
CD8+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
7 UTSW Zap70 wanna3 1 36761798-36782818 bp (+) 36778218 Autosomal Recessive (24)
Autosomal Semidominant (1)
B cells - increased
B:T cells - increased
CD4:CD8 - increased
CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - decreased
CD44 MFI in CD4 - increased
CD44 MFI in CD8 - increased
CD44+ CD4 T cells - decreased
CD44+ CD8 T cells - decreased
CD44+ T cells - decreased
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
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
OVA-specific IgE - 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
8 UTSW Zap70 mesa_verde 1 36761798-36782818 bp (+) 36779173 Autosomal Recessive (7) CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
CD44+ CD8 T cells - increased
CD44+ T cells - increased
central memory CD8 T cells in CD8 T cells - increased
T-dependent humoral response defect- decreased antibody response to rSFV
9 APN Zap70 murdock 1 36761798-36782818 bp (+) 36779704 Unknown CD4+ T cells - decreased
CD8 response - decreased
CD8+ T cells - decreased
immune system
10 UTSW Zap70 trebia 1 36761798-36782818 bp (+) 36781025 Unknown CD4+ T cells - decreased
CD8+ T cells - decreased
hematopoietic competition - disadvantage
immune system
11 APN Zap70 mrtless 1 36761798-36782818 bp (+) 36781149 Unknown CD4+ T cells - decreased
CD8 response - decreased
CD8+ T cells - decreased
immune system
12 UTSW Zap70 wanna4 1 36761798-36782818 bp (+) 36781365 Autosomal Recessive (20) B:T cells - increased
CD4:CD8 - 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
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
naive CD4 T cells in CD4 T cells - decreased
naive CD8 T cells in CD8 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
13 UTSW Zap70 wanna2 1 36761798-36782818 bp (+) 36781412 Autosomal Recessive (5) T-dependent humoral response defect- decreased antibody response to rSFV
14 UTSW Stat1 roccoco 1 52119440-52161865 bp (+) 52123209 Autosomal Recessive (10) CD44 MFI in CD4 - increased
CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
CD44+ CD4 T cells - increased
CD44+ T cells - increased
CTL killing - decreased
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
15 UTSW Stat1 domino 1 52119440-52161865 bp (+) 52140588 Unknown (3) immune system
MCMV proliferation in macrophages - increased
MCMV susceptibility
NK cell response - decreased
response to injected CpG DNA - decreased
RVFV susceptibility
16 UTSW Stat1 poison 1 52119440-52161865 bp (+) 52151225 Unknown (2) immune system
MCMV susceptibility
NK cell response - decreased
17 UTSW Stat1 rollo 1 52119440-52161865 bp (+) 52153923 Autosomal Recessive (4) NK killing - decreased
18 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
19 UTSW Crygd L23 1 65061872-65063452 bp (-) 65063084 Unknown vision/eye
20 UTSW
has photo
Crygb L10 1 65080219-65082288 bp (-) 65082157 Unknown vision/eye
21 UTSW Epha4 frog 1 77367189-77515088 bp (-) 77481076 Unknown behavior/neurological
immune system
nervous system
22 UTSW
has photo
Pax3 Widget 1 78101267-78197134 bp (-) 78122590 Unknown (1) pigmentation
skin/coat/nails
23 UTSW Pax3 Nidoqueen 1 78101267-78197134 bp (-) 78132232 Unknown (1) pigmentation
skin/coat/nails
24 UTSW Col4a4 aoba 1 82448423-82586849 bp (-) 82535740 Unknown (1) digestive/alimentary
hearing/vestibular/ear
renal/urinary system
25 UTSW Inpp5d styx 1 87620312-87720507 bp (+) 87669784 Unknown (1) CTL killing - decreased
growth/size
hematopoietic system
homeostasis/metabolism
immune system
life span-post-weaning/aging
respiratory system
26 UTSW Inpp5d Orange 1 87620312-87720507 bp (+) 87697546 Autosomal Dominant (13)
Autosomal Recessive (5)

Autosomal Semidominant (15)
B cells - decreased
IgD+ B cells - decreased
IgM+ B cells - decreased
27 UTSW Inpp5d Sailing 1 87620312-87720507 bp (+) 87705964 Unknown (2) IgM MFI in B cells - decreased
NK cells - decreased
28 UTSW
has photo
Mlph beau 1 90915085-90951142 bp (+) 90928122 Autosomal Recessive (1) pigmentation
skin/coat/nails
29 UTSW Mlph koala 1 90915085-90951142 bp (+) 90933301 Unknown pigmentation
skin/coat/nails
30 UTSW Per2 Kortiku 1 91415982-91459324 bp (-) 91423829 Autosomal Recessive (2)
Autosomal Semidominant (2)
Circadian defect: decrease in circadian active phase duration
Circadian defect: decrease in circadian phase angle intercept
Circadian defect: decrease in circadian tau DD by eye
Circadian defect: decrease in tau chi squared periodogram
Circadian rhythm
31 UTSW
has video
Syt2 kringle 1 134646677-134762593 bp (+) 134747620 Autosomal Recessive (1)
Autosomal Semidominant (1)
behavior/neurological
growth/size
lethality-postnatal
nervous system
32 UTSW Ptprc guotie 1 138062861-138175708 bp (-) 138068401 Autosomal Recessive (49)
Autosomal Semidominant (7)
B cells - decreased
B:T cells - decreased
B1 cells - increased
B1a cells in B1 cells - decreased
CD4:CD8 - increased
CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - increased
CD44 MFI in CD8 - decreased
CD44 MFI in T cells - decreased
CD44+ CD4 T cells - decreased
CD44+ CD8 T cells - decreased
CD44+ T cells - decreased
CD8+ T cells - decreased
CD8+ T cells in CD3+ T cells - decreased
IgM+ B cells - decreased
immune system
naive CD8 T cells in CD8 T cells - decreased
neutrophils - increased
pDCs in CD11c+ cells - increased
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
33 APN Ptprc lochy 1 138062861-138175708 bp (-) 138083790 Unknown B cells - decreased
CD4+ T cells - decreased
CD8+ T cells - decreased
hematopoietic system
immune system
34 UTSW Ptprc guotie2 1 138062861-138175708 bp (-) 138094299 Autosomal Recessive (18)
Autosomal Semidominant (2)
B cells - decreased
B1a cells in B1 cells - decreased
B1b cells - increased
B2 cells - decreased
B220 MFI in B cells - decreased
CD44 MFI in CD8 - increased
CD8+ T cells - decreased
IgD MFI in B cells - decreased
IgD+ B cells - decreased
IgM+ B cells - decreased
naive CD4 T cells in CD4 T cells - decreased
T cells - decreased
35 UTSW Ptprc belittle 1 138062861-138175708 bp (-) 138137493 Unknown CD4+ T cells - decreased
CD8+ T cells - decreased
hematopoietic system
immune system
36 UTSW Nek7 Cuties 1 138482875-138620141 bp (-) 138544242 Autosomal Semidominant (2) NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
37 UTSW Pappa2 Lilliputian 1 158711727-158980490 bp (-) 158716990 Autosomal Semidominant (2) Body Weight - decreased
growth/size
38 UTSW Pappa2 lilliputian3 1 158711727-158980490 bp (-) 158782403 Autosomal Recessive (2) Body Weight - decreased
39 UTSW Pappa2 Lilliputian2 1 158711727-158980490 bp (-) 158834918 Unknown (2)
Autosomal Dominant (2)

Autosomal Semidominant (1)
Body Weight - decreased
Body Weight (Female) - decreased
Circadian defect: decrease in final body weight
growth/size
40 APN Rc3h1 sanroque 1 160906418-160974978 bp (+) 160940830 Unknown autoimmunity
immune system
41 UTSW
has photo
Rc3h1 curlyfry 1 160906418-160974978 bp (+) 160959399 Unknown (1)
Autosomal Recessive (3)

Autosomal Semidominant (4)
Body Weight - decreased
growth/size
limbs/digits/tail phenotype
42 UTSW Fasl riogrande2 1 161780691-161788495 bp (-) 161787138 Autosomal Recessive (1) T-dependent humoral response defect- decreased antibody response to rSFV
43 UTSW Sell dim_sum2 1 164061982-164084181 bp (+) 164065661 Autosomal Recessive (4) 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
44 UTSW Sell dim_sum 1 164061982-164084181 bp (+) 164066201 Autosomal Dominant (1)
Autosomal Recessive (7)
naive CD4 T cells in CD4 T cells - decreased
45 UTSW Cd247 allia 1 165788681-165877277 bp (+) 165855214 Unknown hematopoietic competition - disadvantage
immune system
46 UTSW
has photo
a garfield 2 154791402-155051012 bp (+) Unknown pigmentation
skin/coat/nails
47 UTSW
has photo
a killer_whale 2 154791402-155051012 bp (+) Unknown pigmentation
skin/coat/nails
48 UTSW
has photo
a yellowbelly 2 154791402-155051012 bp (+) Unknown pigmentation
skin/coat/nails
49 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
50 UTSW Prkcq celina2 2 11172108-11301222 bp (+) 11226986 Autosomal Recessive (1) T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
51 UTSW Prkcq celina 2 11172108-11301222 bp (+) 11283849 Autosomal Recessive (1) T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
52 UTSW
has photo
Rxra pinkie 2 27676440-27762957 bp (+) 27752334 Unknown hematopoietic system
immune system
pigmentation
skeleton phenotype
skin/coat/nails
vision/eye
53 UTSW Neurod1 cruz 2 79452521-79456751 bp (-) 79454595 Autosomal Recessive (5) behavior/neurological
hearing/vestibular/ear
54 UTSW
has photo
Alx4 goofy 2 93642384-93681339 bp (+) 93675369 Unknown craniofacial
limbs/digits/tail phenotype
55 UTSW Rag2 snowcock 2 101624718-101632529 bp (+) 101630603 Autosomal Recessive (15)
Autosomal Semidominant (1)
B cells - decreased
B2 cells - decreased
CD4+ T cells - decreased
CD44 MFI in CD4 - increased
CD44 MFI in CD8 - 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
56 UTSW Rag1 huckle 2 101638282-101649501 bp (-) 101641223 Unknown B cells - decreased
CD4+ T cells - decreased
CD8+ T cells - decreased
immune system
57 UTSW Rag1 maladaptive 2 101638282-101649501 bp (-) 101645647 Unknown (1) B cells - decreased
CD4+ T cells - decreased
CD8+ T cells - decreased
hematopoietic system
immune system
RVFV susceptibility
58 UTSW Eif2ak4 atchoum 2 118388618-118475234 bp (+) 118400653 Unknown (2) adenovirus infection of macrophages - increased
immune system
MCMV proliferation in macrophages - increased
59 UTSW Trp53bp1 lentil2 2 121193281-121271407 bp (-) 121207887 Autosomal Recessive (8) CD44 MFI in CD8 - increased
central memory CD8 T cells in CD8 T cells - increased
IgD MFI in B cells - decreased
IgD+ B cells - decreased
naive CD8 T cells in CD8 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
60 UTSW Trp53bp1 verily 2 121193281-121271407 bp (-) 121211313 Autosomal Recessive (1)
Autosomal Semidominant (1)
IgD MFI in B cells - decreased
61 UTSW Trp53bp1 lentil 2 121193281-121271407 bp (-) 121251868 Autosomal Recessive (4) B:T cells - increased
CD4+ T cells - decreased
CD44 MFI in T cells - increased
IgD MFI in B cells - decreased
T cells - decreased
62 UTSW Trp53bp1 concur 2 121193281-121271407 bp (-) 121270319 Autosomal Dominant (1)
Autosomal Recessive (1)
IgD MFI in B cells - decreased
63 UTSW Gatm mrbig 2 122594467-122611303 bp (-) 122600744 Autosomal Recessive (3)
Autosomal Semidominant (1)
Body Weight - decreased
DSS: sensitive day 10
DSS: sensitive day 7
64 UTSW Sppl2a abra2 2 126890391-126933235 bp (-) 126920313 Autosomal Recessive (5)
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
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
65 UTSW Sppl2a abra 2 126890391-126933235 bp (-) 126923594 Autosomal Recessive (1) T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
66 UTSW
has photo
Tgm3 tortellini 2 130012349-130050399 bp (+) 130024585 Unknown (1) immune system
RVFV susceptibility
skin/coat/nails
67 UTSW Pax1 wavy 2 147361925-147393295 bp (+) 147365802 Unknown (1)
Autosomal Semidominant (3)
limbs/digits/tail phenotype
68 UTSW Itch scratch 2 155133509-155226855 bp (+) 155172561 Autosomal Recessive (3)
Autosomal Semidominant (1)
IgE response to a Cysteine Protease (Papain) - increased
total IgE level - increased
69 UTSW Rims4 demure 2 163859751-163918683 bp (-) 163864120 Autosomal Recessive (3) Body Weight - decreased
growth/size
70 UTSW Rims4 diminutive 2 163859751-163918683 bp (-) 163864865 Autosomal Recessive (2) Body Weight - decreased
growth/size
71 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
72 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
73 UTSW Cp iron10 3 19957054-20009145 bp (+) 19989148 Unknown iron deficiency
74 UTSW
has photo
Hps3 gandalf 3 19995945-20035315 bp (-) 20012796 Autosomal Recessive (1) pigmentation
skin/coat/nails
75 UTSW
has photo
Hps3 pam_gray 3 19995945-20035315 bp (-) 20017173 Unknown (1) DSS: sensitive day 7
pigmentation
skin/coat/nails
76 UTSW
has photo
Hps3 blue 3 19995945-20035315 bp (-) 20030796 Autosomal Semidominant (1) pigmentation
skin/coat/nails
77 UTSW Tlr2 languid 3 83836272-83841767 bp (-) 83837315 Unknown (1) immune system
TLR signaling defect: TNF production by macrophages
78 UTSW Rorc chestnut 3 94372831-94397839 bp (+) 94377609 Autosomal Recessive (3)
Autosomal Semidominant (3)
CD4+ T cells - decreased
CD8+ T cells - decreased
79 UTSW Rorc macadamias2 3 94372831-94397839 bp (+) 94387193 Autosomal Recessive (17) B:T cells - increased
B1a cells - increased
B1b cells - increased
B2 cells - decreased
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
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
IgD MFI in B cells - increased
macrophages - increased
naive CD8 T cells in CD8 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
80 UTSW Rorc macadamias 3 94372831-94397839 bp (+) 94397302 Autosomal Recessive (1) T-dependent humoral response defect- decreased antibody response to rSFV
81 UTSW
has photo
Gja8 L1 3 96918863-96926020 bp (-) 96920197 Unknown vision/eye
82 UTSW Nfkb1 Finlay 3 135584655-135691547 bp (-) 135595053 Unknown (1)
Autosomal Recessive (1)

Autosomal Semidominant (2)
Nlrc4 inflammasome: low response
NLRP3 inflammasome: low response
T-dependent humoral response defect- decreased antibody response to rSFV
83 UTSW Nfkb1 Roomba 3 135584655-135691547 bp (-) 135612412 Autosomal Recessive (1)
Autosomal Semidominant (4)
central memory CD8 T cells in CD8 T cells - increased
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - decreased
84 UTSW Nfkb1 kookaburra 3 135584655-135691547 bp (-) 135626611 Autosomal Dominant (1)
Autosomal Recessive (4)

Autosomal Semidominant (5)
CD44 MFI in CD8 - increased
central memory CD4 T cells in CD4 T cells - decreased
central memory CD8 T cells in CD8 T cells - increased
naive CD8 T cells in CD8 T 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
total IgE after 2nd OVA/Alum - decreased
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
85 UTSW
has photo
Dock7 moonlight 4 98936675-99120860 bp (-) Unknown behavior/neurological
DSS: sensitive day 7
pigmentation
skin/coat/nails
86 UTSW Lyn Pacific 4 3678115-3813122 bp (+) 3745330 Autosomal Dominant (1)
Autosomal Recessive (1)

Autosomal Semidominant (5)
B1 cells - increased
CD11c+ DCs - increased
CD4+ T cells - decreased
CD8+ T cells - decreased
macrophages - increased
NK cells - decreased
T cells - decreased
87 UTSW Lyn Lemon 4 3678115-3813122 bp (+) 3746768 Autosomal Recessive (1)
Autosomal Semidominant (3)
B cells - decreased
IgD+ B cells - decreased
IgM+ B cells - decreased
neutrophils - increased
88 UTSW Lyn Cress 4 3678115-3813122 bp (+) 3789908 Autosomal Dominant (6)
Autosomal Recessive (4)

Autosomal Semidominant (12)
B cells - decreased
B:T cells - decreased
B1a cells - increased
B1a cells in B1 cells - increased
B220 MFI in B cells - decreased
CD4+ T cells - increased
CD8+ T cells - increased
IgD+ 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
89 UTSW
has video
Esrp1 triaka 4 11331933-11386783 bp (-) 11379300 Unknown (1) behavior/neurological
hearing/vestibular/ear
nervous system
90 UTSW Aqp3 phoebus 4 41092722-41098183 bp (-) 41095252 Unknown (1) DSS: sensitive
immune system
91 UTSW Pax5 glacier 4 44531145-44710487 bp (-) 44679494 Autosomal Recessive (2)
Autosomal Semidominant (1)
B1 cells - increased
B1b cells in B1 cells - decreased
92 UTSW Pax5 glacier2 4 44531145-44710487 bp (-) 44710407 Autosomal Recessive (13)
Autosomal Semidominant (2)
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
93 UTSW Tlr4 Lops 4 66827584-66930284 bp (+) 66833880 Autosomal Semidominant (3) NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
94 UTSW Tlr4 bugsy 4 66827584-66930284 bp (+) 66839254 Autosomal Recessive (3) Macrophage necroptosis: high
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
95 UTSW Tlr4 Guardiola 4 66827584-66930284 bp (+) 66839303 Unknown (1)
Autosomal Recessive (1)

Autosomal Semidominant (3)
Nlrc4 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
96 UTSW Tlr4 milquetoast 4 66827584-66930284 bp (+) 66839444 Autosomal Recessive (1) TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
97 UTSW Tlr4 cruyff 4 66827584-66930284 bp (+) 66840326 Autosomal Recessive (3)
Autosomal Semidominant (3)
Macrophage necroptosis: low
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
98 UTSW Tlr4 lps3 4 66827584-66930284 bp (+) 66841097 Unknown (1) immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
99 UTSW Tlr4 Lps4 4 66827584-66930284 bp (+) 66841142 Unknown (1) immune system
TLR signaling defect: TNF production by macrophages
100 UTSW Tlr4 don_knotts 4 66827584-66930284 bp (+) 66841172 Unknown (1)
Autosomal Recessive (4)
B cells - decreased
B220 MFI in B cells - decreased
IgD+ B cells - decreased
IgM+ B cells - decreased
TLR signaling defect: hyposensitivity to LPS
[records 1 to 100 of 539] next >> last >|