Phenotypic Mutations

602 mutations affecting 286 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 2016-05-13
Stephen Lyon
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) 2018-03-08
Diantha La Vine
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) 2016-12-08
Katherine Timer
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)
2016-10-28
Anne Murray
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 2016-05-13
Stephen Lyon
craniofacial
limbs/digits/tail phenotype
skin/coat/nails
6 UTSW Edar achtung2 10 58600789-58675654 bp (-) 58603163 Unknown 2018-04-24
Diantha La Vine
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)
2017-05-17
Katherine Timer
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)
2017-05-12
Anne Murray
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 Ighe Allegra 12 113271174-113273248 bp (-) 113271374 Autosomal Semidominant (3;13) 2018-07-20
Anne Murray
IgE response to a Cysteine Protease (Papain) - decreased
immune system
ratio of OVA-specific IgE over the total IgE - increased
total IgE level - decreased
10 UTSW Cd247 allia 1 165788681-165877277 bp (+) 165855214 Unknown 2016-05-13
Stephen Lyon
hematopoietic competition - disadvantage
immune system
11 UTSW Cd36 almond_joy 5 17781690-17888959 bp (-) 17813088 Autosomal Recessive (1;5) 2017-10-05
External Program
fasting hyperglycemia
12 UTSW Prkcb Almonde 7 122288751-122634402 bp (+) 122582449 Autosomal Recessive (1;5)
 Autosomal Semidominant (6;41)
2017-05-12
Anne Murray
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
13 APN Atp11c ambrosius X 60223290-60592698 bp (-) 36608577 Unknown 2016-05-13
Stephen Lyon
anemia
FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
14 UTSW Casp8 amontillado 1 58795374-58847503 bp (+) 58844770 Autosomal Recessive (8;55) 2018-02-01
Anne Murray
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
15 UTSW Hr angie 14 70552212-70573548 bp (+) 70567833 Autosomal Recessive (4;27) 2018-03-07
Anne Murray
FACS B cells - decreased
FACS CD44+ CD8 MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
immune system
skin/coat/nails
16 UTSW Col4a4 aoba 1 82448423-82586849 bp (-) 82535740 Unknown (1;0) 2016-05-13
Stephen Lyon
digestive/alimentary
hearing/vestibular/ear
renal/urinary system
17 UTSW Tnfsf13b Applecrisp 8 10006843-10035441 bp (+) 10031534 Autosomal Recessive (1;1)
 Autosomal Semidominant (1;5)
2016-12-08
Katherine Timer
FACS B:T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
18 UTSW Dock2 Arches 11 34226815-34783892 bp (-) 34689760 Autosomal Recessive (1;6)
 Autosomal Semidominant (3;18)
2016-12-08
Katherine Timer
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
19 UTSW Alms1 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive (1;5)
 Autosomal Semidominant (1;4)
2018-05-24
Anne Murray
Body Weight - increased
Body Weight (Male) - increased
growth/size
20 UTSW Alms1 ares2 6 85587531-85702753 bp (+) 85677990 Autosomal Recessive (7;58)
 Autosomal Semidominant (2;9)
2018-04-20
Anne Murray
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
21 UTSW Ltbr armitage 6 125306571-125313885 bp (-) 125312794 Autosomal Dominant (1;1)
 Autosomal Semidominant (1;2)
2018-04-02
Diantha La Vine
Bone: Lean Fat Ratio (female) - decreased
Bone: Lean Fat Ratio (female) - increased
Bone: Lean Mass (female) - increased
22 UTSW Fcer2a arum 8 3681737-3694174 bp (-) 3688796 Autosomal Recessive (5;32) 2018-01-28
Bruce Beutler
FACS B cells - decreased
FACS CD11c+ DCs - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS neutrophils - increased
immune system
23 UTSW Tlr9 Asura 9 106222598-106226883 bp (+) 106224647 Autosomal Semidominant (2;16) 2016-05-13
Anne Murray
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
24 UTSW Eif2ak4 atchoum 2 118388618-118475234 bp (+) 118400653 Unknown (2;0) 2016-05-13
Stephen Lyon
adenovirus infection of macrophages - increased
immune system
MCMV proliferation in macrophages - increased
25 UTSW Traf3 bananasplit 12 111166370-111267153 bp (+) 111262036 Unknown 2017-03-29
Katherine Timer
26 UTSW Gk5 barrener 9 96119362-96184608 bp (+) 96129096 Autosomal Recessive (5;27)
 Autosomal Semidominant (1;4)
2018-04-27
Anne Murray
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
27 UTSW Ptprc belittle 1 138062861-138175708 bp (-) 138137493 Unknown 2018-07-10
Diantha La Vine
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
hematopoietic system
immune system
28 UTSW Aicda bellezza 6 122553801-122564180 bp (+) 122561185 Autosomal Dominant (1;4)
 Autosomal Recessive (7;40)

 Autosomal Semidominant (1;9)
2018-07-18
Anne Murray
immune system
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
NALP3 inflammasome signaling defect
Nlrc4 inflammasome: high response
NLRP3 inflammasome: high response
OVA-specific IgE - decreased
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
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: TNF production by macrophages
total IgE level - decreased
29 UTSW Rho Bemr3 6 115931927-115938829 bp (+) 115935131 Unknown 2017-06-22
Anne Murray
vision/eye
30 UTSW Rac2 Big_bend 15 78559169-78572783 bp (-) 78565945 Autosomal Dominant (1;2)
 Autosomal Recessive (5;12)

 Autosomal Semidominant (2;10)
2017-08-09
Diantha La Vine
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
31 UTSW Mc4r Big_boned 18 66857715-66860472 bp (-) 66859488 Autosomal Recessive (1;5)
 Autosomal Semidominant (5;26)
2018-02-02
Anne Murray
30 Min. Insulin - increased
Body Weight - increased
Fasting Insulin - increased
growth/size
Pfizer: DyMA-IR - increased
Pfizer: HOMA-IR - increased
Total Cholesterol - increased
32 UTSW Rac2 bingo 15 78559169-78572783 bp (-) 78564968 Autosomal Recessive (1;6) 2017-12-19
Anne Murray
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
33 UTSW Blk blaenka 14 63372837-63417187 bp (-) 63384002 Autosomal Recessive (4;20) 2018-03-19
External Program
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
34 UTSW Klhl6 blossom 16 19946499-19983037 bp (-) 19957139 Autosomal Recessive (4;26) 2018-07-20
Anne Murray
FACS B:T cells - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS T cells - increased
immune system
35 UTSW Cd40 bluebonnet 2 165055627-165072948 bp (+) 165062301 Autosomal Recessive (2;12)
 Autosomal Semidominant (1;3)
2017-06-23
Katherine Timer
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
36 UTSW Ltbr bonsai 6 125306571-125313885 bp (-) 125312770 Autosomal Recessive (3;20) 2018-04-02
Diantha La Vine
FACS NK T cells - increased
fasting hyperglycemia (female)
immune system
NK cell response - decreased
NK killing - decreased
37 UTSW Ticam2 Branch 18 46559155-46574533 bp (-) 46560651 Autosomal Dominant (2;6)
 Autosomal Semidominant (2;8)
2017-09-08
Diantha La Vine
immune system
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
38 UTSW Malt1 bryce_canyon 18 65430963-65478823 bp (+) 65462915 Autosomal Recessive (3;10)
 Autosomal Semidominant (1;3)
2016-05-13
Anne Murray
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
39 UTSW Adamts20 buckeye 15 94270163-94465418 bp (-) 94341087 Unknown (1;0) 2018-03-12
Diantha La Vine
pigmentation
skin/coat/nails
40 UTSW Tlr4 bugsy 4 66827584-66930284 bp (+) 66839254 Autosomal Recessive (3;27) 2016-12-09
Katherine Timer
immune system
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
41 UTSW Nfkbid bumble 7 30421732-30428746 bp (+) 30425411 Unknown (2;0) 2017-03-28
Katherine Timer
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
42 UTSW Apbb2 bund 5 66298861-66618828 bp (-) 66400255 Autosomal Recessive (1;3) 2018-04-05
Anne Murray
30 min GTT hyperglycemic
43 UTSW Blnk busy 19 40928927-40994535 bp (-) 40952391 Unknown (2;0) 2016-12-09
Katherine Timer
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
44 UTSW Tyrp1 butter 4 80834123-80851719 bp (+) 80840806 Autosomal Recessive (1;7) 2016-09-15
Katherine Timer
pigmentation
skin/coat/nails
45 UTSW Ptpn6 candle 6 124720707-124738714 bp (-) 124728419 Autosomal Recessive (8;52)
 Autosomal Semidominant (3;14)
2018-04-06
Diantha La Vine
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
46 UTSW Dock2 capitol_reef 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive (6;45) 2016-12-02
Katherine Timer
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
47 APN Dock8 captain_morgan 19 24999529-25202432 bp (+) 25127711 Unknown 2016-05-13
Peter Jurek
FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
48 UTSW Cd8b1 Carlsbad 6 71322812-71337451 bp (+) 71334101 Autosomal Recessive (1;4)
 Autosomal Semidominant (3;15)
2016-12-30
Katherine Timer
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
49 UTSW Kit Casper 5 75574916-75656722 bp (+) 75645875 Unknown 2016-05-13
Stephen Lyon
hematopoietic system
immune system
pigmentation
reproductive system
skin/coat/nails
50 UTSW Prkcq celina 2 11172108-11301222 bp (+) 11283849 Autosomal Recessive (1;6) 2018-01-18
Anne Murray
immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
51 UTSW Prkcq celina2 2 11172108-11301222 bp (+) 11226986 Autosomal Recessive (1;4) 2016-11-08
Anne Murray
immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
52 UTSW Zeb1 cellophane 18 5591860-5775467 bp (+) 5770554 Unknown (3;0) 2016-05-13
Anne Murray
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
53 UTSW Klhl6 cerulean 16 19946499-19983037 bp (-) 19957218 Autosomal Recessive (8;130)
 Autosomal Semidominant (5;37)
2018-07-20
Anne Murray
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - 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 CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
immune system
54 UTSW Dclre1c Chairy 2 3424131-3464130 bp (+) 3452863 Autosomal Dominant (1;4)
 Autosomal Recessive (3;14)

 Autosomal Semidominant (4;16)
2018-06-15
Anne Murray
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 CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
immune system
55 UTSW Oca2 charbon 7 56239760-56536517 bp (+) 56316405 Unknown 2018-01-12
Diantha La Vine
pigmentation
skin/coat/nails
56 UTSW Fas cherry 19 34290659-34327770 bp (+) 34327140 Autosomal Recessive (4;25) 2016-05-13
Anne Murray
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
FACS neutrophils - increased
FACS NK cells - increased
FACS T cells - decreased
immune system
57 UTSW Rorc chestnut 3 94372831-94397839 bp (+) 94377609 Autosomal Recessive (4;22)
 Autosomal Semidominant (3;14)
2016-12-07
Anne Murray
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
58 UTSW Mc4r chubby 18 66857715-66860472 bp (-) 66859847 Autosomal Recessive (3;18) 2016-09-20
Katherine Timer
adipose tissue
Body Weight - increased
Body Weight (DSS) - increased
Circadian Final Body Weight - increased
Circadian rhythm
growth/size
59 UTSW Jak3 citron 8 71676296-71690575 bp (+) 71686976 Autosomal Recessive (6;33)
 Autosomal Semidominant (1;5)
2016-05-13
Peter Jurek
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
60 UTSW Themis cloudies 10 28668360-28883818 bp (+) 28761199 Autosomal Recessive (18;248) 2018-05-15
Anne Murray
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
61 UTSW Prkdc clover 16 15637866-15842235 bp (+) 15702157 Unknown 2018-06-22
Diantha La Vine
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
62 UTSW Trp53bp1 concur 2 121193281-121271407 bp (-) 121270319 Autosomal Dominant (1;4)
 Autosomal Recessive (1;4)
2017-09-15
Anne Murray
30 Min. Insulin (Male) - decreased
FACS IgD MFI - decreased
immune system
63 UTSW Ticam2 Consequential 18 46559155-46574533 bp (-) 46560779 Autosomal Semidominant (2;10) 2018-01-31
Anne Murray
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
64 UTSW Ppp3cb Copacabana 14 20499364-20546573 bp (-) 20530942 Autosomal Dominant (1;4)
 Autosomal Recessive (4;21)

 Autosomal Semidominant (8;48)
2018-04-04
Emre Turer
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
65 UTSW Pde6d costume 1 86542994-86582629 bp (-) 86547526 Unknown (2;0)
 Autosomal Recessive (3;16)
2018-04-12
Anne Murray
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
66 UTSW Tlr9 Cpg1 9 106222598-106226883 bp (+) 106225007 Unknown (3;0) 2017-03-28
Katherine Timer
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
67 UTSW Tlr9 Cpg11 9 106222598-106226883 bp (+) 106224586 Unknown (1;0) 2016-05-13
Anne Murray
TLR signaling defect: TNF production by macrophages
68 UTSW Tlr9 Cpg2 9 106222598-106226883 bp (+) 106226465 Unknown (2;0) 2016-05-13
Peter Jurek
immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
69 UTSW Tlr9 Cpg3 9 106222598-106226883 bp (+) 106224152 Unknown (3;0) 2016-05-13
Peter Jurek
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
70 UTSW Tlr9 Cpg5 9 106222598-106226883 bp (+) 106224689 Unknown (2;0) 2016-05-13
Peter Jurek
immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
71 UTSW Tlr9 Cpg6 9 106222598-106226883 bp (+) 106226593 Unknown (2;0) 2016-05-13
Peter Jurek
immune system
response to injected CpG DNA - decreased
TLR signaling defect: TNF production by macrophages
72 UTSW Tlr9 Cpg7 9 106222598-106226883 bp (+) 106225349 Unknown (2;0) 2016-11-10
Anne Murray
immune system
TLR signaling defect: TNF production by macrophages
73 UTSW Cd79a crab 7 24897381-24902197 bp (+) 24899175 Unknown (2;0) 2017-08-31
Diantha La Vine
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
74 UTSW Galc Crabby2 12 98202304-98259459 bp (-) 98234266 Autosomal Semidominant (1;7) 2017-05-25
Katherine Timer
Body Weight - decreased
75 UTSW Ebf1 crater_lake 11 44617317-45008091 bp (+) 44972908 Unknown (8;0) 2018-07-20
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
immune system
76 UTSW Cd4 craw 6 124864692-124888221 bp (-) 124867746 Unknown (3;0) 2016-05-13
Bruce Beutler
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
77 UTSW Aicda creeper 6 122553801-122564180 bp (+) 122561867 Autosomal Recessive (2;17)
 Autosomal Semidominant (2;16)
2018-07-18
Anne Murray
immune system
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to rSFV
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
78 UTSW Lyn Cress 4 3678115-3813122 bp (+) 3789908 Autosomal Dominant (7;35)
 Autosomal Recessive (4;18)

 Autosomal Semidominant (10;51)
2016-09-16
Katherine Timer
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 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 B1a cells - increased
post-MCMV FACS B1b cells - increased
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
79 UTSW Cd22 crullers 7 30865402-30880342 bp (-) 30869883 Autosomal Dominant (1;4)
 Autosomal Recessive (9;49)

 Autosomal Semidominant (4;23)
2017-08-03
Diantha La Vine
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 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
80 UTSW Tlr4 cruyff 4 66827584-66930284 bp (+) 66840326 Autosomal Recessive (3;31)
 Autosomal Semidominant (3;16)
2016-12-09
Katherine Timer
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
81 UTSW Neurod1 cruz 2 79452521-79456751 bp (-) 79454595 Autosomal Recessive (5;21) 2018-02-02
Anne Murray
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
82 UTSW Ltbp3 csp 19 5740904-5758532 bp (+) 5747688 Unknown 2016-05-13
Stephen Lyon
craniofacial
growth/size
limbs/digits/tail phenotype
skeleton phenotype
83 UTSW Themis currant 10 28668360-28883818 bp (+) 28782011 Autosomal Recessive (10;66) 2017-06-20
Katherine Timer
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 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
84 UTSW Nek7 Cuties 1 138482875-138620141 bp (-) 138544242 Autosomal Semidominant (2;10) 2018-05-21
Anne Murray
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
85 UTSW Atp7b daffodil 8 21992785-22060305 bp (-) 21998266 Unknown (1;0) 2017-12-19
Anne Murray
liver/biliary system
MTT Value of PECs - decreased
86 UTSW Diaph1 damselfly 18 37843601-37935476 bp (-) 37897550 Autosomal Recessive (17;176) 2018-02-02
Anne Murray
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
87 UTSW Myd88 Dani_alves 9 119335934-119341411 bp (-) 119337823 Autosomal Semidominant (4;17) 2017-06-14
Katherine Timer
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
88 UTSW Tap2 date 17 34203527-34216321 bp (+) 34212354 Autosomal Recessive (6;61) 2016-09-28
Katherine Timer
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
89 UTSW Tap2 date2 17 34203527-34216321 bp (+) 34214032 Autosomal Recessive (16;242)
 Autosomal Semidominant (1;4)
2018-01-31
Anne Murray
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
90 UTSW Card11 Dealer 5 140872999-141000596 bp (-) 140885877 Autosomal Semidominant (3;15) 2018-01-30
Anne Murray
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
91 UTSW Themis death_valley 10 28668360-28883818 bp (+) 28668727 Autosomal Recessive (4;32)
 Autosomal Semidominant (4;20)
2017-06-20
Katherine Timer
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 effector memory CD4 T cells in CD4 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
immune system
92 UTSW Cdh23 dee_dee 10 60302748-60696490 bp (-) 60308056 Autosomal Recessive (1;4) 2018-04-25
Anne Murray
behavior/neurological
hearing/vestibular/ear
93 UTSW Fbxl3 delargo 14 103080239-103099566 bp (-) 103089418 Autosomal Recessive (4;46)
 Autosomal Semidominant (1;14)
2018-01-31
Anne Murray
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
94 UTSW Rims4 demure 2 163859751-163918683 bp (-) 163864120 Autosomal Recessive (3;14) 2018-02-06
Anne Murray
Body Weight - decreased
Body Weight (Female) - decreased
growth/size
95 UTSW Dock2 denali 11 34226815-34783892 bp (-) 34229472 Autosomal Recessive (2;25)
 Autosomal Semidominant (4;20)
2016-12-16
Anne Murray
FACS B cells - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
FACS NK cells - increased
immune system
total IgE level - increased
96 UTSW Bcl10 derek 3 145924378-145934283 bp (+) 145930587 Autosomal Dominant (1;4)
 Autosomal Recessive (16;159)

 Autosomal Semidominant (2;11)
2018-04-25
Anne Murray
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
NK cell response - decreased
NK killing - decreased
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
97 UTSW Dock2 dew 11 34226815-34783892 bp (-) 34248636 Unknown (1;0) 2017-03-21
Katherine Timer
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
98 UTSW Sell dim_sum 1 164061982-164084181 bp (+) 164066201 Autosomal Dominant (1;4)
 Autosomal Recessive (7;45)
2016-05-13
Peter Jurek
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
99 UTSW Sell dim_sum2 1 164061982-164084181 bp (+) 164065661 Autosomal Recessive (4;54) 2016-05-17
Anne Murray
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
100 UTSW Rims4 diminutive 2 163859751-163918683 bp (-) 163864865 Autosomal Recessive (2;13) 2018-02-06
Anne Murray
Body Weight - decreased
Body Weight (Male) - decreased
growth/size
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