Phenotypic Mutations

602 mutations affecting 286 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 604] 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?
Updated question?
Phenotypic Category question?

and
and
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
has photo
Rorb 4-limb_clasper 19 18930605-19111196 bp (-) 18983351 Unknown 2018-06-12
Diantha La Vine
behavior/neurological
4 UTSW
has photo
Lyst 50-cal 13 13590409-13777440 bp (+) 13708212 Autosomal Recessive (9;84) 2017-05-24
Katherine Timer
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS pDCs - increased
immune system
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
MCMV susceptibility
pigmentation
post-MCMV FACS B1 cells - increased
skin/coat/nails
5 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
6 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
7 UTSW Edaradd achtung 13 12471209-12520450 bp (-) 12478497 Unknown 2016-05-13
Stephen Lyon
craniofacial
limbs/digits/tail phenotype
skin/coat/nails
8 UTSW Edar achtung2 10 58600789-58675654 bp (-) 58603163 Unknown 2018-04-24
Diantha La Vine
craniofacial
limbs/digits/tail phenotype
skin/coat/nails
9 UTSW
has video
Tomt add 7 101898373-101903785 bp (-) 101902129 Unknown 2016-05-13
Stephen Lyon
behavior/neurological
hearing/vestibular/ear
nervous system
10 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
11 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
12 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
13 UTSW Cd247 allia 1 165788681-165877277 bp (+) 165855214 Unknown 2016-05-13
Stephen Lyon
hematopoietic competition - disadvantage
immune system
14 UTSW Cd36 almond_joy 5 17781690-17888959 bp (-) 17813088 Autosomal Recessive (1;5) 2017-10-05
External Program
fasting hyperglycemia
15 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
16 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
17 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
18 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
19 UTSW Col4a4 aoba 1 82448423-82586849 bp (-) 82535740 Unknown (1;0) 2016-05-13
Stephen Lyon
digestive/alimentary
hearing/vestibular/ear
renal/urinary system
20 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
21 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
22 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
23 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
24 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
25 UTSW
has photo
Bicc1 artemis 10 70922832-71159700 bp (-) 71027954 Unknown 2016-05-13
Stephen Lyon
homeostasis/metabolism
life span-post-weaning/aging
renal/urinary system
26 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
27 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
28 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
29 UTSW Traf3 bananasplit 12 111166370-111267153 bp (+) 111262036 Unknown 2017-03-29
Katherine Timer
30 UTSW
has photo
Grhl1 bandit 12 24572287-24617391 bp (+) 24578027 Unknown 2016-05-13
Stephen Lyon
Body Weight - decreased
growth/size
skin/coat/nails
31 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
32 UTSW
has photo
Frem1 bat 4 82897927-83052339 bp (-) 82983060 Unknown 2016-05-13
Stephen Lyon
limbs/digits/tail phenotype
renal/urinary system
skin/coat/nails
vision/eye
33 UTSW
has photo
Mlph beau 1 90915085-90951142 bp (+) 90928122 Autosomal Recessive (1;4) 2016-12-07
Anne Murray
pigmentation
skin/coat/nails
34 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
35 UTSW
has photo
Ap3b1 bella 13 94358960-94566316 bp (+) 94528257 Autosomal Recessive (1;4) 2018-02-22
Anne Murray
pigmentation
skin/coat/nails
36 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
37 UTSW Rho Bemr3 6 115931927-115938829 bp (+) 115935131 Unknown 2017-06-22
Anne Murray
vision/eye
38 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
39 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
40 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
41 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
42 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
43 UTSW
has photo
Hps3 blue 3 19995945-20035315 bp (-) 20030796 Autosomal Semidominant (1;1) 2016-05-13
Anne Murray
pigmentation
skin/coat/nails
44 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
45 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
46 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
47 UTSW
has photo
Pah bronze 10 87521795-87584136 bp (+) 87570226 Unknown 2016-05-13
Stephen Lyon
behavior/neurological
homeostasis/metabolism
pigmentation
skin/coat/nails
48 UTSW
has photo
Atp7a brown X 106027276-106124926 bp (+) 106088491 Unknown 2016-05-13
Stephen Lyon
pigmentation
skin/coat/nails
49 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
50 UTSW Adamts20 buckeye 15 94270163-94465418 bp (-) 94341087 Unknown (1;0) 2018-03-12
Diantha La Vine
pigmentation
skin/coat/nails
51 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
52 UTSW
has photo
Ap3b1 bullet_gray 13 94358960-94566316 bp (+) 94451087 Unknown (2;0) 2018-01-15
Diantha La Vine
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
53 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
54 UTSW Apbb2 bund 5 66298861-66618828 bp (-) 66400255 Autosomal Recessive (1;3) 2018-04-05
Anne Murray
30 min GTT hyperglycemic
55 UTSW
has photo
Dsg4 burrito 18 20436175-20471821 bp (+) 20451862 Autosomal Recessive (1;5) 2016-11-16
Anne Murray
skin/coat/nails
56 UTSW
has photo
Lepr business_class 4 101717404-101815352 bp (+) 101764872 Unknown 2018-04-06
Diantha La Vine
adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
reproductive system
57 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
58 UTSW Tyrp1 butter 4 80834123-80851719 bp (+) 80840806 Autosomal Recessive (1;7) 2016-09-15
Katherine Timer
pigmentation
skin/coat/nails
59 UTSW
has photo
Tyrp1 ca-los 4 80834123-80851719 bp (+) 80844868 Unknown (2;0)
 Autosomal Recessive (1;1)
2016-12-07
Anne Murray
immune system
MCMV resistance
pigmentation
skin/coat/nails
60 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
61 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
62 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
63 UTSW
has photo
Slc45a2 cardigan 15 11000721-11029233 bp (+) 11022172 Unknown 2016-05-13
Stephen Lyon
pigmentation
skin/coat/nails
64 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
65 UTSW
has photo
Mmp14 cartoon 14 54431604-54441258 bp (+) 54439999 Unknown 2016-05-13
Stephen Lyon
craniofacial
growth/size
lethality-embryonic/perinatal
life span-post-weaning/aging
reproductive system
vision/eye
66 UTSW Kit Casper 5 75574916-75656722 bp (+) 75645875 Unknown 2016-05-13
Stephen Lyon
hematopoietic system
immune system
pigmentation
reproductive system
skin/coat/nails
67 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
68 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
69 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
70 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
71 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
72 UTSW Oca2 charbon 7 56239760-56536517 bp (+) 56316405 Unknown 2018-01-12
Diantha La Vine
pigmentation
skin/coat/nails
73 UTSW
has photo
Lyst charlotte_gray 13 13590409-13777440 bp (+) 13602026 Unknown 2017-05-24
Katherine Timer
pigmentation
skin/coat/nails
74 UTSW
has photo
Lyst charzard 13 13590409-13777440 bp (+) 13647083 Autosomal Recessive (1;1) 2017-05-24
Katherine Timer
pigmentation
skin/coat/nails
75 UTSW
has photo
Slc45a2 cheng 15 11000721-11029233 bp (+) 11025868 Unknown (1;0) 2016-12-07
Anne Murray
pigmentation
skin/coat/nails
76 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
77 UTSW
has photo
Lepr cherub 4 101717404-101815352 bp (+) 101768063 Unknown 2018-04-06
Diantha La Vine
adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
reproductive system
78 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
79 UTSW
has photo
Tyrp1 chi 4 80834123-80851719 bp (+) 80840778 Unknown (1;0) 2016-12-07
Anne Murray
pigmentation
skin/coat/nails
80 UTSW
has photo
Ap3d1 christian 10 80706978-80742211 bp (-) 80730042 Autosomal Semidominant (1;0) 2016-05-13
Anne Murray
pigmentation
skin/coat/nails
81 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
82 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
83 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
84 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
85 UTSW
has photo
Rab27a concrete 9 73044854-73098501 bp (+) 73082409 Unknown (1;0) 2016-05-13
Peter Jurek
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
86 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
87 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
88 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
89 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
90 UTSW
has photo
Oca2 cotton 7 56239760-56536517 bp (+) 56535968 Autosomal Recessive (1;3) 2018-04-25
Anne Murray
pigmentation
skin/coat/nails
91 UTSW
has video
Myo7a coward 7 98051060-98119524 bp (-) 98085466 Autosomal Recessive (3;17) 2018-04-25
Anne Murray
behavior/neurological
Circadian rhythm
Circadian Tau Activity Onset - decreased
Circadian Tau DD by eye - decreased
hearing/vestibular/ear
92 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
93 UTSW Tlr9 Cpg11 9 106222598-106226883 bp (+) 106224586 Unknown (1;0) 2016-05-13
Anne Murray
TLR signaling defect: TNF production by macrophages
94 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
95 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
96 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
97 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
98 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
99 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
100 UTSW Galc Crabby2 12 98202304-98259459 bp (-) 98234266 Autosomal Semidominant (1;7) 2017-05-25
Katherine Timer
Body Weight - decreased
[records 1 to 100 of 604] next >> last >|