Phenotypic Mutations

583 mutations affecting 277 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
FACS 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) immune system
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)
FACS central memory CD8 T cells in CD8 T cells - increased
immune system
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
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
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)
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
FACS CD11c+ DCs - decreased
FACS pDCs - increased
immune system
8 UTSW Cd8a alfalfa 6 71373427-71379171 bp (+) 71373728 Autosomal Dominant (1;4)
Autosomal Recessive (7;49)

Autosomal Semidominant (6;64)
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
immune system
MCMV susceptibility
post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
post-MCMV FACS CD44+ CD8 MFI - increased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS 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)
FACS B1 cells - decreased
FACS B1a cells - decreased
FACS B1a cells in B1 cells - decreased
FACS IgM MFI - increased
immune system
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS 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
FACS 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) FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
immune system
14 UTSW Hr angie 14 70552212-70573548 bp (+) 70567833 Autosomal Recessive (3;23) FACS CD44+ CD8 MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
immune system
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)
FACS B:T cells - decreased
immune system
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)
FACS B1 cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
immune system
18 UTSW Alms1 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive (1;5)
Autosomal Semidominant (1;4)
Body Weight - increased
Body Weight (Male) - increased
growth/size
19 UTSW Alms1 ares2 6 85587531-85702753 bp (+) 85677990 Autosomal Recessive (7;58)
Autosomal Semidominant (2;9)
30 Min. Insulin - increased
30 Min. Insulin (Male) - increased
Fasting Insulin - increased
Fasting Insulin (Female) - increased
Fasting Insulin (Male) - increased
Pfizer: DyMA-IR - increased
Pfizer: HOMA Residual - increased
Pfizer: HOMA Residual (Male) - increased
Pfizer: HOMA-IR - increased
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
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
21 UTSW Fcer2a arum 8 3681737-3694174 bp (-) 3688796 Autosomal Recessive (5;32) FACS B cells - decreased
FACS CD11c+ DCs - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS neutrophils - increased
immune system
22 UTSW Tlr9 Asura 9 106222598-106226883 bp (+) 106224647 Autosomal Semidominant (2;16) hyposensitivity to TLR CpGODN + IFNg
immune system
TLR signaling defect: hyposensitivity to CpG
TLR signaling defect: hyposensitivity to CpG + IFNg
TLR signaling defect: TNF production by macrophages
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) immune system
T-dependent humoral response defect- decreased antibody response to rSFV
25 UTSW Gk5 barrener 9 96119362-96184608 bp (+) 96129096 Autosomal Recessive (5;27)
Autosomal Semidominant (1;4)
FACS CD4:CD8 - decreased
FACS CD44+ CD8 T cells - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: high response
skin/coat/nails
26 UTSW Ptprc belittle 1 138062861-138175708 bp (-) 138137493 Unknown FACS CD4+ T cells - decreased
FACS 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)
FACS B1 cells - decreased
FACS B1a cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 cells - increased
FACS CD4:CD8 - increased
FACS CD8+ T cells - decreased
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
29 UTSW Mc4r Big_boned 18 66857715-66860472 bp (-) 66859488 Autosomal Recessive (1;5)
Autosomal Semidominant (5;26)
30 Min. Insulin - increased
Body Weight - increased
Fasting Insulin - increased
growth/size
Pfizer: DyMA-IR - increased
Pfizer: HOMA-IR - increased
Total Cholesterol - increased
30 UTSW Rac2 bingo 15 78559169-78572783 bp (-) 78564968 Autosomal Recessive (1;6) immune system
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
immune system
NALP3 inflammasome signaling defect
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)
immune system
OVA-specific IgE - increased
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
33 UTSW Ltbr bonsai 6 125306571-125313885 bp (-) 125312770 Autosomal Recessive (3;20) FACS NK T cells - increased
fasting hyperglycemia (female)
immune system
NK cell response - decreased
NK killing - decreased
34 UTSW Ticam2 Branch 18 46559155-46574533 bp (-) 46560651 Autosomal Dominant (2;6)
Autosomal Semidominant (2;8)
immune system
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)
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
immune system
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) immune system
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
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) FACS 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) FACS 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)
FACS B cells - decreased
FACS B1 cells - increased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS CD11c+ DCs - increased
FACS CD44+ CD8 MFI - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
immune system
43 UTSW Dock2 capitol_reef 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive (6;45) FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
immune system
OVA-specific IgE - increased
total IgE level - increased
44 APN Dock8 captain_morgan 19 24999529-25202432 bp (+) 25127711 Unknown FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
45 UTSW Cd8b1 Carlsbad 6 71322812-71337451 bp (+) 71334101 Autosomal Recessive (1;4)
Autosomal Semidominant (3;15)
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
immune system
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) immune system
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) immune system
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 Dclre1c Chairy 2 3424131-3464130 bp (+) 3452863 Autosomal Dominant (1;4)
Autosomal Recessive (3;14)

Autosomal Semidominant (5;20)
Body Weight - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ T MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
immune system
51 UTSW Oca2 charbon 7 56239760-56536517 bp (+) 56316405 Unknown pigmentation
skin/coat/nails
52 UTSW Fas cherry 19 34290659-34327770 bp (+) 34327140 Autosomal Recessive (4;25) FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
FACS neutrophils - increased
FACS NK cells - increased
FACS T cells - decreased
immune system
53 UTSW Rorc chestnut 3 94372831-94397839 bp (+) 94377609 Autosomal Recessive (4;22)
Autosomal Semidominant (3;14)
Body Weight (Male) - increased
FACS B:T cells - increased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
FACS NK cells - increased
FACS T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
54 UTSW Mc4r chubby 18 66857715-66860472 bp (-) 66859847 Autosomal Recessive (3;18) adipose tissue
Body Weight - increased
Body Weight (DSS) - increased
Circadian Final Body Weight - increased
Circadian rhythm
growth/size
55 UTSW Jak3 citron 8 71676296-71690575 bp (+) 71686976 Autosomal Recessive (6;33)
Autosomal Semidominant (1;5)
cellular phenotype
FACS B cells - increased
FACS B:T cells - increased
FACS B1b cells - decreased
FACS CD8+ T cells - decreased
FACS IgD+ B cell percentage - increased
FACS IgM+ B cells - increased
FACS macrophages - decreased
hematopoietic system
immune system
56 UTSW Themis cloudies 10 28668360-28883818 bp (+) 28761199 Autosomal Recessive (18;248) CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B:T cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
57 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
58 UTSW Trp53bp1 concur 2 121193281-121271407 bp (-) 121270319 Autosomal Dominant (1;4)
Autosomal Recessive (1;4)
30 Min. Insulin (Male) - decreased
FACS IgD MFI - decreased
immune system
59 UTSW Ticam2 Consequential 18 46559155-46574533 bp (-) 46560779 Autosomal Semidominant (2;10) immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
60 UTSW Ppp3cb Copacabana 14 20499364-20546573 bp (-) 20530942 Autosomal Dominant (1;4)
Autosomal Recessive (4;21)

Autosomal Semidominant (8;48)
Circadian Power FFT - decreased
Circadian rhythm
Circadian Wheel Revs/24H - decreased
DSS: sensitive day 10
FACS B:T cells - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS NK cells - increased
FACS T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
total IgE level - increased
61 UTSW Pde6d costume 1 86542994-86582629 bp (-) 86547526 Unknown (2;0)
Autosomal Recessive (3;16)
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
62 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
63 UTSW Tlr9 Cpg11 9 106222598-106226883 bp (+) 106224586 Unknown (1;0) TLR signaling defect: TNF production by macrophages
64 UTSW Tlr9 Cpg2 9 106222598-106226883 bp (+) 106226465 Unknown (2;0) immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
65 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
66 UTSW Tlr9 Cpg5 9 106222598-106226883 bp (+) 106224689 Unknown (2;0) immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
67 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
68 UTSW Tlr9 Cpg7 9 106222598-106226883 bp (+) 106225349 Unknown (2;0) immune system
TLR signaling defect: TNF production by macrophages
69 UTSW Cd79a crab 7 24897381-24902197 bp (+) 24899175 Unknown (2;0) FACS 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
70 UTSW Galc Crabby2 12 98202304-98259459 bp (-) 98234266 Autosomal Semidominant (1;7) Body Weight - decreased
71 UTSW Cd4 craw 6 124864692-124888221 bp (-) 124867746 Unknown (3;0) FACS 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
72 UTSW Lyn Cress 4 3678115-3813122 bp (+) 3789908 Autosomal Dominant (6;31)
Autosomal Recessive (4;18)

Autosomal Semidominant (12;70)
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B220 MFI - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS neutrophils - decreased
FACS T cells - increased
immune system
MCMV susceptibility
post-MCMV FACS B cells - decreased
post-MCMV FACS B:T cells - decreased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgM+ B cells - decreased
post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased
post-MCMV FACS 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
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - decreased
73 UTSW Cd22 crullers 7 30865402-30880342 bp (-) 30869883 Autosomal Dominant (1;4)
Autosomal Recessive (10;53)

Autosomal Semidominant (4;23)
FACS B cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B1b cells - increased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - decreased
FACS IgD MFI - decreased
immune system
post-MCMV FACS B cells - decreased
post-MCMV FACS B:T cells - decreased
post-MCMV FACS B1a cells - increased
post-MCMV FACS B1a cells in B1 cells - increased
post-MCMV FACS B1b cells in B1 cells - decreased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgM MFI - increased
post-MCMV FACS IgM+ B cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
74 UTSW Tlr4 cruyff 4 66827584-66930284 bp (+) 66840326 Autosomal Recessive (3;31)
Autosomal Semidominant (3;16)
immune system
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
75 UTSW Neurod1 cruz 2 79452521-79456751 bp (-) 79454595 Autosomal Recessive (5;21) behavior/neurological
Circadian Active Phase Duration - decreased
Circadian rhythm
Circadian Tau Activity Onset - decreased
Circadian Tau Chi Squared Periodogram - decreased
Circadian Tau DD by eye - decreased
hearing/vestibular/ear
76 UTSW Ltbp3 csp 19 5740904-5758532 bp (+) 5747688 Unknown craniofacial
growth/size
limbs/digits/tail phenotype
skeleton phenotype
77 UTSW Themis currant 10 28668360-28883818 bp (+) 28782011 Autosomal Recessive (12;75) FACS B:T cells - increased
FACS B1a cells - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
78 UTSW Nek7 Cuties 1 138482875-138620141 bp (-) 138544242 Autosomal Semidominant (2;10) immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
79 UTSW Atp7b daffodil 8 21992785-22060305 bp (-) 21998266 Unknown (1;0) liver/biliary system
MTT Value of PECs - decreased
80 UTSW Diaph1 damselfly 18 37843601-37935476 bp (-) 37897550 Autosomal Recessive (17;176) FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
IgA response to 2nd OVA/Alum Challenge (day 7) - increased
immune system
81 UTSW Myd88 Dani_alves 9 119335934-119341411 bp (-) 119337823 Autosomal Semidominant (4;17) hyposensitivity to TLR CpGODN + IFNg
immune system
TLR signaling defect: hyposensitivity to CpG
TLR signaling defect: hyposensitivity to CpG + IFNg
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
82 UTSW Tap2 date 17 34203527-34216321 bp (+) 34212354 Autosomal Recessive (6;61) FACS B:T cells - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
immune system
83 UTSW Tap2 date2 17 34203527-34216321 bp (+) 34214032 Autosomal Recessive (16;242)
Autosomal Semidominant (1;4)
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B1a cells in B1 cells - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - decreased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - decreased
FACS naive CD4 T cells in CD4 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
immune system
NK cell response - decreased
NK killing - decreased
Pfizer: DyMA Residual (Female) - increased
84 UTSW Card11 Dealer 5 140872999-141000596 bp (-) 140885877 Autosomal Semidominant (3;15) FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
85 UTSW Themis death_valley 10 28668360-28883818 bp (+) 28668727 Autosomal Recessive (5;41)
Autosomal Semidominant (5;25)
FACS B:T cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS T cells - decreased
immune system
86 UTSW Cdh23 dee_dee 10 60302748-60696490 bp (-) 60308056 Autosomal Recessive (1;4) behavior/neurological
hearing/vestibular/ear
87 UTSW Fbxl3 delargo 14 103080239-103099566 bp (-) 103089418 Autosomal Recessive (4;46)
Autosomal Semidominant (1;14)
Circadian Active Phase Duration - decreased
Circadian rhythm
Circadian Tau Activity Onset - decreased
Circadian Tau Chi Squared Periodogram - increased
Circadian Tau DD by eye - increased
fasting hyperglycemia
88 UTSW Rims4 demure 2 163859751-163918683 bp (-) 163864120 Autosomal Recessive (3;14) Body Weight - decreased
Body Weight (Female) - decreased
growth/size
89 UTSW Dock2 denali 11 34226815-34783892 bp (-) 34229472 Autosomal Recessive (2;25)
Autosomal Semidominant (5;25)
FACS B cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
FACS NK cells - increased
immune system
total IgE level - increased
90 UTSW Bcl10 derek 3 145924378-145934283 bp (+) 145930587 Autosomal Dominant (1;4)
Autosomal Recessive (15;155)

Autosomal Semidominant (2;11)
Bone: Femur BMD (female) - increased
FACS B1 cells - decreased
FACS CD4+ T cells - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS IgM MFI - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - increased
immune system
OVA-specific IgE - 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
Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
total IgE level - increased
91 UTSW Dock2 dew 11 34226815-34783892 bp (-) 34248636 Unknown (1;0) FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
92 UTSW Sell dim_sum 1 164061982-164084181 bp (+) 164066201 Autosomal Dominant (1;4)
Autosomal Recessive (7;45)
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
93 UTSW Sell dim_sum2 1 164061982-164084181 bp (+) 164065661 Autosomal Recessive (4;54) FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
94 UTSW Rims4 diminutive 2 163859751-163918683 bp (-) 163864865 Autosomal Recessive (2;13) Body Weight - decreased
Body Weight (Male) - decreased
growth/size
95 UTSW Apbb2 Dionysis 5 66298861-66618828 bp (-) 66452250 Autosomal Semidominant (1;4) 30 min GTT hyperglycemic
96 UTSW Tnf Dome 17 35199381-35202007 bp (-) 35201674 Unknown (4;0) immune system
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
97 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
98 UTSW Tlr4 don_knotts 4 66827584-66930284 bp (+) 66841172 Unknown (1;0)
Autosomal Recessive (4;20)
FACS B cells - decreased
FACS B220 MFI - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
immune system
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
99 UTSW Slc6a3 dopey 13 73536747-73578672 bp (+) 73560959 Autosomal Recessive (8;43) Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Bone: Femur BMD - decreased
Bone: Lean Mass - decreased
Bone: Tibia BMC - decreased
Bone: Tibia BMC (male) - decreased
Bone: Tibia Length - decreased
100 UTSW Slc6a3 Dopey2 13 73536747-73578672 bp (+) 73544817 Autosomal Semidominant (1;4) Body Weight - decreased
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