Phenotypic Mutations

569 mutations affecting 273 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
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1 APN Atp11c 18nih30a X 60223290-60592698 bp (-) 36608577 Unknown anemia
B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
2 UTSW Unc93b1 3d 19 3935186-3949340 bp (+) 3944168 Unknown (2;0) DSS: sensitive day 7
immune system
MCMV susceptibility
response to injected CpG DNA - decreased
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
3 UTSW Sppl2a abra 2 126890391-126933235 bp (-) 126923594 Autosomal Recessive (1;5) T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
4 UTSW Sppl2a abra2 2 126890391-126933235 bp (-) 126920313 Autosomal Recessive (5;44)
Autosomal Semidominant (1;4)
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
5 UTSW Edaradd achtung 13 12471209-12520450 bp (-) 12478497 Unknown craniofacial
limbs/digits/tail phenotype
skin/coat/nails
6 UTSW Edar achtung2 10 58600789-58675654 bp (-) 58603163 Unknown craniofacial
limbs/digits/tail phenotype
skin/coat/nails
7 UTSW Itgax Adendritic 7 128129547-128150656 bp (+) 128148572 Autosomal Recessive (1;7)
Autosomal Semidominant (2;20)
CD11b+ DCs in CD11c+ cells - decreased
CD11c+ DCs - decreased
pDCs in CD11c+ cells - decreased
8 UTSW Cd8a alfalfa 6 71373427-71379171 bp (+) 71373728 Autosomal Dominant (1;4)
Autosomal Recessive (7;49)

Autosomal Semidominant (6;64)
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
9 UTSW Cd247 allia 1 165788681-165877277 bp (+) 165855214 Unknown hematopoietic competition - disadvantage
immune system
10 UTSW Cd36 almond_joy 5 17781690-17888959 bp (-) 17813088 Autosomal Recessive (1;5) fasting hyperglycemia
11 UTSW Prkcb Almonde 7 122288751-122634402 bp (+) 122582449 Autosomal Recessive (1;5)
Autosomal Semidominant (6;41)
B1 cells - decreased
post-MCMV B1a cells in B1 cells - decreased
post-MCMV B1b cells in B1 cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
12 APN Atp11c ambrosius X 60223290-60592698 bp (-) 36608577 Unknown anemia
B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
13 UTSW Casp8 amontillado 1 58795374-58847503 bp (+) 58844770 Autosomal Recessive (8;55) CD4:CD8 - decreased
CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - decreased
CD44 MFI in CD8 - increased
CD8+ T cells in CD3+ T cells - increased
effector memory CD8 T cells in CD8 T cells - increased
naive CD8 T cells in CD8 T cells - decreased
14 UTSW Hr angie 14 70552212-70573548 bp (+) 70567833 Autosomal Recessive (1;5) skin/coat/nails
15 UTSW Col4a4 aoba 1 82448423-82586849 bp (-) 82535740 Unknown (1;0) digestive/alimentary
hearing/vestibular/ear
renal/urinary system
16 UTSW Tnfsf13b Applecrisp 8 10006843-10035441 bp (+) 10031534 Autosomal Recessive (1;1)
Autosomal Semidominant (1;5)
B:T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
17 UTSW Dock2 Arches 11 34226815-34783892 bp (-) 34689760 Autosomal Recessive (1;6)
Autosomal Semidominant (3;18)
B1 cells - increased
CD4:CD8 - decreased
CD4+ T cells in CD3+ T cells - decreased
CD8+ T cells in CD3+ T cells - increased
18 UTSW Alms1 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive (1;5)
Autosomal Semidominant (1;4)
adipose tissue
Body Weight - increased
growth/size
19 UTSW Alms1 ares2 6 85587531-85702753 bp (+) 85677990 Autosomal Recessive (7;58)
Autosomal Semidominant (2;9)
fasting hyperinsulinemia
high insulin levels after a 30-minute glucose challenge
Pfizer: increase in HOMA Residual
Pfizer: increase in HOMA-IR
20 UTSW Ltbr armitage 6 125306571-125313885 bp (-) 125312794 Unknown (2;0)
Autosomal Recessive (2;6)
Bone: Lean Fat Ratio (female) - increased
Bone: Lean Mass (female) - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
21 UTSW Fcer2a arum 8 3681737-3694174 bp (-) 3688796 Autosomal Recessive (5;32) B cells - decreased
CD11c+ DCs - increased
IgD+ B cells - decreased
IgM+ B cells - decreased
neutrophils - increased
22 UTSW Tlr9 Asura 9 106222598-106226883 bp (+) 106224647 Autosomal Semidominant (2;16) TLR signaling defect: hyposensitivity to CpG
23 UTSW Eif2ak4 atchoum 2 118388618-118475234 bp (+) 118400653 Unknown (2;0) adenovirus infection of macrophages - increased
immune system
MCMV proliferation in macrophages - increased
24 UTSW Traf3 bananasplit 12 111166370-111267153 bp (+) 111262036 Autosomal Recessive (1;8) T-dependent humoral response defect- decreased antibody response to rSFV
25 UTSW Gk5 barrener 9 96119362-96184608 bp (+) 96129096 Autosomal Recessive (4;24)
Autosomal Semidominant (1;4)
CD44+ CD8 T cells - increased
CD8+ T cells - increased
CD8+ T cells in CD3+ T cells - increased
skin/coat/nails
26 UTSW Ptprc belittle 1 138062861-138175708 bp (-) 138137493 Unknown CD4+ T cells - decreased
CD8+ T cells - decreased
hematopoietic system
immune system
27 UTSW Rho Bemr3 6 115931927-115938829 bp (+) 115935131 Unknown vision/eye
28 UTSW Rac2 Big_bend 15 78559169-78572783 bp (-) 78565945 Autosomal Dominant (1;2)
Autosomal Recessive (5;12)

Autosomal Semidominant (2;10)
B1 cells - decreased
B1a cells in B1 cells - decreased
B1b cells - increased
29 UTSW Mc4r Big_boned 18 66857715-66860472 bp (-) 66859488 Autosomal Recessive (1;5)
Autosomal Semidominant (5;26)
Body Weight - increased
growth/size
30 UTSW Rac2 bingo 15 78559169-78572783 bp (-) 78564968 Autosomal Recessive (1;6) T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
31 UTSW Blk blaenka 14 63372837-63417187 bp (-) 63384002 Autosomal Recessive (4;20) IgE response to a Cysteine Protease (Papain) - increased
Nlrc4 inflammasome: high response
NLRP3 inflammasome: high response
total IgE level - increased
32 UTSW Cd40 bluebonnet 2 165055627-165072948 bp (+) 165062301 Autosomal Recessive (2;12)
Autosomal Semidominant (1;3)
OVA-specific IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
33 UTSW Ltbr bonsai 6 125306571-125313885 bp (-) 125312770 Autosomal Recessive (3;20) NK killing - decreased
NK T cells - increased
34 UTSW Ticam2 Branch 18 46559155-46574533 bp (-) 46560651 Autosomal Dominant (2;6)
Autosomal Semidominant (2;8)
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
35 UTSW Malt1 bryce_canyon 18 65430963-65478823 bp (+) 65462915 Autosomal Recessive (3;10)
Autosomal Semidominant (1;3)
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
36 UTSW Adamts20 buckeye 15 94270163-94465418 bp (-) 94341087 Unknown (1;0) pigmentation
skin/coat/nails
37 UTSW Tlr4 bugsy 4 66827584-66930284 bp (+) 66839254 Autosomal Recessive (3;27) Macrophage necroptosis: high
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
38 UTSW Nfkbid bumble 7 30421732-30428746 bp (+) 30425411 Unknown (2;0) 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
39 UTSW Apbb2 bund 5 66298861-66618828 bp (-) 66400255 Autosomal Recessive (1;3) 30 min GTT hyperglycemic
40 UTSW Blnk busy 19 40928927-40994535 bp (-) 40952391 Unknown (2;0) 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
41 UTSW Tyrp1 butter 4 80834123-80851719 bp (+) 80840806 Autosomal Recessive (1;7) pigmentation
skin/coat/nails
42 UTSW Ptpn6 candle 6 124720707-124738714 bp (-) 124728419 Autosomal Recessive (8;52)
Autosomal Semidominant (3;14)
B cells - decreased
B1 cells - increased
B1a cells - increased
B1a cells in B1 cells - increased
B1b cells - increased
B2 cells - decreased
CD11c+ DCs - increased
CD44 MFI in CD8 - increased
IgD+ B cells - decreased
IgM+ B cells - decreased
macrophages - increased
43 UTSW Dock2 capitol_reef 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive (6;45) OVA-specific IgE - increased
total IgE level - increased
44 APN Dock8 captain_morgan 19 24999529-25202432 bp (+) 25127711 Unknown B cells - decreased
CD4+ T cells - decreased
CD8+ T cells - decreased
immune system
45 UTSW Cd8b1 Carlsbad 6 71322812-71337451 bp (+) 71334101 Autosomal Recessive (1;4)
Autosomal Semidominant (3;15)
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
46 UTSW Kit Casper 5 75574916-75656722 bp (+) 75645875 Unknown hematopoietic system
immune system
pigmentation
reproductive system
skin/coat/nails
47 UTSW Prkcq celina 2 11172108-11301222 bp (+) 11283849 Autosomal Recessive (1;6) T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
48 UTSW Prkcq celina2 2 11172108-11301222 bp (+) 11226986 Autosomal Recessive (1;4) T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
49 UTSW Zeb1 cellophane 18 5591860-5775467 bp (+) 5770554 Unknown (3;0) 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 Oca2 charbon 7 56239760-56536517 bp (+) 56316405 Unknown pigmentation
skin/coat/nails
51 UTSW Fas cherry 19 34290659-34327770 bp (+) 34327140 Autosomal Recessive (4;25) CD4+ T cells - decreased
CD8+ T cells - decreased
neutrophils - increased
NK cells - increased
T cells - decreased
52 UTSW Rorc chestnut 3 94372831-94397839 bp (+) 94377609 Autosomal Recessive (4;22)
Autosomal Semidominant (3;14)
CD4+ T cells - decreased
CD8+ T cells - decreased
53 UTSW Mc4r chubby 18 66857715-66860472 bp (-) 66859847 Autosomal Recessive (3;18) adipose tissue
growth/size
54 UTSW Jak3 citron 8 71676296-71690575 bp (+) 71686976 Autosomal Recessive (6;33)
Autosomal Semidominant (1;5)
B cells - increased
B:T cells - increased
cellular phenotype
hematopoietic system
IgD+ B cells - increased
IgM+ B cells - increased
immune system
55 UTSW Themis cloudies 10 28668360-28883818 bp (+) 28761199 Autosomal Recessive (18;248) B:T cells - increased
CD4:CD8 - 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
CD44+ CD8 T cells - increased
CD8+ T cells - decreased
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
CTL killing - decreased
effector memory CD4 T cells in CD4 T cells - increased
naive CD4 T cells in CD4 T cells - decreased
naive CD8 T cells in CD8 T cells - decreased
T cells - decreased
56 UTSW Prkdc clover 16 15637866-15842235 bp (+) 15702157 Unknown T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
57 UTSW Trp53bp1 concur 2 121193281-121271407 bp (-) 121270319 Autosomal Dominant (1;4)
Autosomal Recessive (1;4)
IgD MFI in B cells - decreased
58 UTSW Ticam2 Consequential 18 46559155-46574533 bp (-) 46560779 Autosomal Semidominant (2;10) NLRP3 inflammasome: low response
59 UTSW Ppp3cb Copacabana 14 20499364-20546573 bp (-) 20530942 Autosomal Dominant (1;4)
Autosomal Recessive (4;21)

Autosomal Semidominant (8;48)
B:T cells - increased
CD4+ T cells - decreased
CD44 MFI in CD8 - increased
CD8+ T cells - decreased
central memory CD8 T cells in CD8 T cells - increased
Circadian defect: decreased wheel revs/24H
NK cells - increased
T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
60 UTSW Pde6d costume 1 86542994-86582629 bp (-) 86547526 Unknown (2;0)
Autosomal Recessive (3;16)
Body Weight - decreased
Body Weight (Female) - decreased
61 UTSW Tlr9 Cpg1 9 106222598-106226883 bp (+) 106225007 Unknown (3;0) immune system
MCMV susceptibility
response to injected CpG DNA - decreased
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
62 UTSW Tlr9 Cpg11 9 106222598-106226883 bp (+) 106224586 Unknown (1;0) TLR signaling defect: TNF production by macrophages
63 UTSW Tlr9 Cpg2 9 106222598-106226883 bp (+) 106226465 Unknown (2;0) immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
64 UTSW Tlr9 Cpg3 9 106222598-106226883 bp (+) 106224152 Unknown (3;0) immune system
MCMV susceptibility
response to injected CpG DNA - decreased
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
65 UTSW Tlr9 Cpg5 9 106222598-106226883 bp (+) 106224689 Unknown (2;0) immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
66 UTSW Tlr9 Cpg6 9 106222598-106226883 bp (+) 106226593 Unknown (2;0) immune system
response to injected CpG DNA - decreased
TLR signaling defect: TNF production by macrophages
67 UTSW Tlr9 Cpg7 9 106222598-106226883 bp (+) 106225349 Unknown (2;0) DSS: sensitive
immune system
TLR signaling defect: TNF production by macrophages
68 UTSW Cd79a crab 7 24897381-24902197 bp (+) 24899175 Unknown (2;0) 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
69 UTSW Galc Crabby2 12 98202304-98259459 bp (-) 98234266 Autosomal Semidominant (1;7) Body Weight - decreased
70 UTSW Cd4 craw 6 124864692-124888221 bp (-) 124867746 Unknown (3;0) 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
71 UTSW Lyn Cress 4 3678115-3813122 bp (+) 3789908 Autosomal Dominant (6;31)
Autosomal Recessive (4;18)

Autosomal Semidominant (12;70)
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
72 UTSW Cd22 crullers 7 30865402-30880342 bp (-) 30869883 Autosomal Dominant (1;4)
Autosomal Recessive (10;53)

Autosomal Semidominant (4;23)
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
73 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
74 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
75 UTSW Ltbp3 csp 19 5740904-5758532 bp (+) 5747688 Unknown craniofacial
growth/size
limbs/digits/tail phenotype
skeleton phenotype
76 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
77 UTSW Nek7 Cuties 1 138482875-138620141 bp (-) 138544242 Autosomal Semidominant (2;10) NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
78 UTSW Atp7b daffodil 8 21992785-22060305 bp (-) 21998266 Unknown (1;0) liver/biliary system
MTT Value of PECs - decreased
79 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
80 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
81 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
82 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
83 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
84 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
85 UTSW Cdh23 dee_dee 10 60302748-60696490 bp (-) 60308056 Autosomal Recessive (1;4) hearing/vestibular/ear
86 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
87 UTSW Rims4 demure 2 163859751-163918683 bp (-) 163864120 Autosomal Recessive (3;14) Body Weight - decreased
growth/size
88 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
89 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
90 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
91 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
92 UTSW Rims4 diminutive 2 163859751-163918683 bp (-) 163864865 Autosomal Recessive (2;13) Body Weight - decreased
growth/size
93 UTSW Apbb2 Dionysis 5 66298861-66618828 bp (-) 66452250 Autosomal Semidominant (1;4) 30 min GTT hyperglycemic
94 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
95 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
96 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
97 UTSW Slc6a3 dopey 13 73536747-73578672 bp (+) 73560959 Autosomal Recessive (3;16) Body Weight - decreased
Body Weight (Male) - decreased
98 UTSW Slc6a3 Dopey2 13 73536747-73578672 bp (+) 73544817 Autosomal Semidominant (1;4) Body Weight - decreased
99 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
100 UTSW Agtpbp1 drunk 13 59449537-59585227 bp (-) 59512323 Unknown behavior/neurological
nervous system
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