Phenotypic Mutations

54 mutations affecting 51 genes are currently displayed.
Mutations Mapped and Identified Based on Phenotype
[records 1 to 54 of 54] per page Full List Export
 
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1 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
2 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
3 UTSW
has photo
 Kbtbd2 teeny 6 56777524-56797813 bp (-) 56780389 Unknown (1;0)
 Autosomal Recessive (4;30)

 Autosomal Semidominant (1;7) 		2018-07-20
Anne Murray 		30 min GTT hyperglycemic
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
FACS CD44+ CD8 T cells - increased
growth/size
immune system
liver/biliary system
4 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
5 UTSW Ptprc guotie 1 138062861-138175708 bp (-) 138068401 Autosomal Recessive (49;486)
 Autosomal Semidominant (8;52) 		2018-07-10
Diantha La Vine 		30 min GTT hypoglycemic
30 min GTT hypoglycemic (male)
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS CD11c+ DCs - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD44+ T 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 CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK T cells - decreased
FACS T cells - decreased
immune system
Pfizer: decrease in 30 Min glucose residual (male)
post-MCMV FACS B cells - decreased
post-MCMV FACS B:T cells - decreased
post-MCMV FACS B1 cells - increased
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
post-MCMV FACS B220 MFI - decreased
post-MCMV FACS CD11b+ DCs (gated in CD11c+ cells) - increased
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD4+ T cells - decreased
post-MCMV FACS CD44+ CD8 MFI - increased
post-MCMV FACS CD44+ T MFI - increased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased
post-MCMV FACS IgD MFI - decreased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgM MFI - increased
post-MCMV FACS IgM+ B cells - decreased
post-MCMV FACS macrophages - decreased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
post-MCMV FACS neutrophils - increased
post-MCMV FACS pDCs - decreased
post-MCMV FACS 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
total IgE level - decreased
6 UTSW Slc13a5 punk2 11 72241994-72267222 bp (-) 72253391 Autosomal Recessive (3;16) 2018-06-19
Anne Murray 		Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (HFD
0 weeks) - decreased
7 UTSW Fnip1 hamel 11 54438199-54518235 bp (+) 54480685 Unknown 2018-06-15
Diantha La Vine 		hematopoietic competition - disadvantage
hematopoietic system
homeostasis/metabolism
muscle
8 UTSW Vav1 Plain_sight 17 57279100-57328031 bp (+) 57297122 Autosomal Semidominant (1;5) 2018-06-13
Anne Murray 		FACS B1 cells - decreased
immune system
9 UTSW Itgb2 nibbler 10 77530252-77565708 bp (+) 77561216 Autosomal Recessive (23;172) 2018-06-13
Anne Murray 		CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
FACS CD4:CD8 - increased
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 - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS CD8a+ DCs (gated in CD11c+ 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 IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS neutrophils - decreased
FACS NK T cells - increased
immune system
NK cell response - decreased
NK killing - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - increased
10 UTSW Itgb2 newhome 10 77530252-77565708 bp (+) 77559681 Autosomal Recessive (2;21) 2018-06-13
Anne Murray 		dsDNA induced type I IFN production - increased
immune system
impaired response to dsDNA- type I IFN production by macrophages
11 UTSW
has video
 Agtpbp1 gru 13 59449537-59585227 bp (-) 59473746 Autosomal Recessive (23;155)
 Autosomal Semidominant (2;10) 		2018-05-22
Anne Murray 		behavior/neurological
Blood Pressure: HR Day 3 - decreased
Body Weight - decreased
Body Weight (BP Female) - decreased
Body Weight (BP Male) - decreased
Body Weight (BP) - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Bone: Femur BMD - decreased
Bone: Fore Hip Distance - decreased
Bone: Fore Hip Distance (female) - decreased
Bone: Fore Hip Distance (male) - decreased
Bone: Lean Mass - decreased
Bone: Lean Mass (male) - decreased
Bone: Pelvis Length - decreased
Bone: Pelvis Length (female) - decreased
Bone: Pelvis Length (male) - decreased
Bone: Tibia Length - decreased
Bone: Tibia Length (male) - decreased
growth/size
Motor: Rotarod Average - decreased
Motor: Rotarod Test 1 - decreased
Motor: Rotarod Test 2 - decreased
Motor: Rotarod Test 3 - decreased
Motor: Rotarod Training 2 - decreased
Motor: Rotarod Training 3 - decreased
12 UTSW Lepr giant 4 101717404-101815352 bp (+) 101765152 Autosomal Recessive (9;66) 2018-05-22
Anne Murray 		Body Weight - increased
Body Weight (Male) - increased
eye: decrease in BM to ELM thickness
FACS macrophages - increased
growth/size
immune system
NK cell response - decreased
NK killing - decreased
Pfizer: decrease in fasting glucose residual
Pfizer: decrease in fasting glucose residual (male)
total IgE level - increased
13 UTSW Inpp5d Orange 1 87620312-87720507 bp (+) 87697546 Autosomal Dominant (3;10)
 Autosomal Semidominant (6;30) 		2018-05-10
Anne Murray 		FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD11c+ DCs - increased
FACS CD44+ CD4 T cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
immune system
14 UTSW Entpd5 eatsy 12 84373875-84409029 bp (-) 84382295 Autosomal Recessive (9;41)
 Autosomal Semidominant (1;4) 		2018-05-08
Anne Murray 		125-03 Response - increased
Body Weight - decreased
Body Weight (DSS) - decreased
Body Weight (Female) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1 cells - increased
FACS IgD MFI - decreased
growth/size
immune system
phagocytosis in PECs - decreased
15 UTSW Gk5 tangyuan 9 96119362-96184608 bp (+) 96150797 Autosomal Dominant (1;5)
 Autosomal Recessive (5;20) 		2018-04-27
Anne Murray 		FACS B1b cells - decreased
FACS CD4:CD8 - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
immune system
skin/coat/nails
16 UTSW
has video
 Myo6 torticollis 9 80165031-80311729 bp (+) 80288217 Autosomal Recessive (4;15) 2018-04-25
Anne Murray 		behavior/neurological
dsDNA induced type I IFN production - increased
hearing/vestibular/ear
immune system
impaired response to dsDNA- type I IFN production by macrophages
17 UTSW Fgfr4 Modest 13 55152640-55168759 bp (+) 55166251 Autosomal Semidominant (4;21) 2018-04-11
Anne Murray 		Body Weight - decreased
Body Weight (DSS Male) - decreased
Body Weight (DSS) - decreased
FACS B1a cells in B1 cells - decreased
immune system
18 UTSW Lepr well-upholstered 4 101717404-101815352 bp (+) 101772959 Unknown 2018-04-06
Diantha La Vine 		adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
reproductive system
19 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
20 UTSW Prkdc screamer6 16 15637866-15842235 bp (+) 15759605 Autosomal Recessive (2;11) 2018-03-28
Diantha La Vine 		FACS effector memory CD4 T cells in CD4 T cells - increased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
21 UTSW
has photo
 Hr mister_clean 14 70552212-70573548 bp (+) 70560065 Unknown 2018-03-02
Diantha La Vine 		skin/coat/nails
22 UTSW Hr yuanxiao 14 70552212-70573548 bp (+) 70571448 Autosomal Recessive (1;4) 2018-03-02
Diantha La Vine 		skin/coat/nails
23 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
24 UTSW Tg ito2 15 66670753-66850721 bp (+) 66671396 Unknown (1;0)
 Autosomal Recessive (10;60)

 Autosomal Semidominant (1;5) 		2018-01-15
Diantha La Vine 		Body Weight - decreased
Body Weight (Female) - decreased
DSS: sensitive day 10
FACS B cells - decreased
FACS CD4:CD8 - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
fasting hyperglycemia
fasting hyperglycemia (female)
immune system
Pfizer: increase in fasting glucose residual
Pfizer: increase in fasting glucose residual (female)
25 UTSW Oca2 quicksilver 7 56239760-56536517 bp (+) 56324661 Unknown 2018-01-12
Diantha La Vine 		pigmentation
skin/coat/nails
26 APN Muc2 Winnie 7 141690340-141754693 bp (+) 141699460 Unknown 2017-09-13
Diantha La Vine 		DSS: sensitive day 7
immune system
27 UTSW Map3k8 gnostic_gospel 18 4331327-4353015 bp (-) 4333965 Unknown (1;0)
 Autosomal Dominant (1;3)

 Autosomal Recessive (4;20)


 Autosomal Semidominant (4;16) 		2017-09-11
Diantha La Vine 		FACS B1 cells - increased
hyposensitivity to TLR CpGODN + IFNg
IgE response to a Cysteine Protease (Papain) - increased
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to CpG + IFNg
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to PAM3CSK4
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: TNF production by macrophages
28 UTSW Card11 May 5 140872999-141000596 bp (-) 140876495 Unknown 2017-09-08
Diantha La Vine 		T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
29 UTSW Cd22 well 7 30865402-30880342 bp (-) 30877787 Unknown 2017-08-03
Diantha La Vine 		FACS B cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
30 UTSW Dock8 snowdrop 19 24999529-25202432 bp (+) 25184941 Autosomal Recessive (7;30)
 Autosomal Semidominant (1;4) 		2017-05-17
Anne Murray 		eye: fundus spots
FACS B:T cells - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells - decreased
FACS 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
31 UTSW Slx4 slim 16 3979105-4003770 bp (-) 3990910 Autosomal Recessive (5;26) 2017-05-12
Anne Murray 		Body Weight - decreased
Body Weight (DSS Female) - decreased
Body Weight (DSS) - decreased
Body Weight (Female) - decreased
Circadian Final Body Weight - decreased
Circadian rhythm
growth/size
32 UTSW Ciita sisal 16 10488178-10527564 bp (+) 10513288 Autosomal Recessive (9;49)
 Autosomal Semidominant (1;4) 		2017-05-12
Anne Murray 		FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
immune system
post-MCMV FACS CD4:CD8 - decreased
post-MCMV FACS CD8+ T cells in CD3+ 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
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
33 UTSW Clock uhr 5 76212177-76304548 bp (-) 76229554 Autosomal Recessive (2;7)
 Autosomal Semidominant (1;6) 		2017-05-10
Katherine Timer 		Body Weight - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
34 UTSW Map3k14 lucky 11 103219762-103267472 bp (-) 103249558 Unknown (1;0) 2017-04-06
Katherine Timer 		FACS B cells - decreased
hematopoietic system
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
35 UTSW Slc6a6 durango 6 91684067-91759063 bp (+) 91723471 Autosomal Recessive (1;4)
 Autosomal Semidominant (1;4) 		2017-03-31
Anne Murray 		eye: chorioretinal lesions
FACS naive CD4 T cells in CD4 T cells - decreased
immune system
vision/eye
36 UTSW Tlr7 rsq1 X 167304929-167330558 bp (-) 167308286 Unknown (1;0) 2017-03-28
Katherine Timer 		immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
37 UTSW Cd14 heedless 18 36725067-36726654 bp (-) 36726171 Unknown (1;0) 2017-03-27
Katherine Timer 		immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
38 UTSW Atp11c emptyhive X 60223290-60592698 bp (-) 60269987 Unknown 2017-03-21
Katherine Timer 		FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
reproductive system
39 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
40 UTSW
has video
 Myo15 typhoon 11 60469339-60528369 bp (+) 60487425 Autosomal Dominant (1;7)
 Autosomal Recessive (1;5) 		2017-03-03
Anne Murray 		behavior/neurological
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
41 UTSW Impdh1 steve 6 29200434-29216364 bp (-) 29204632 Autosomal Recessive (6;38) 2017-02-23
Anne Murray 		Body Weight (Male) - increased
eye: decrease in BM to ELM thickness
eye: decrease in BM to ILM thickness
eye: decrease in ONL thickness
fasting hypoglycemia (female)
Pfizer: HOMA-IR - increased
vision/eye
42 UTSW Msh6 medea 17 87975050-87990883 bp (+) 87980223 Autosomal Recessive (2;24) 2017-01-11
Anne Murray 		immune system
ratio of OVA-specific IgE over the total IgE - increased
total IgE level - decreased
43 UTSW Tlr4 Lps4 4 66827584-66930284 bp (+) 66841142 Unknown (1;0) 2016-12-09
Katherine Timer 		immune system
TLR signaling defect: TNF production by macrophages
44 UTSW
has photo
 Hps5 smoky 7 46760466-46796064 bp (-) 46769351 Autosomal Recessive (1;2) 2016-12-08
Anne Murray 		pigmentation
skin/coat/nails
45 UTSW Tnfsf13b Frozen 8 10006843-10035441 bp (+) 10031661 Autosomal Recessive (6;46)
 Autosomal Semidominant (9;97) 		2016-12-08
Katherine Timer 		FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS CD11c+ DCs - increased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
FACS T cells - 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
46 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
47 UTSW Ticam1 Pangu 17 56269319-56276786 bp (-) 56276693 Unknown (2;0) 2016-10-13
Anne Murray 		TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
48 UTSW Rorc macadamias2 3 94372831-94397839 bp (+) 94387193 Autosomal Recessive (17;113) 2016-08-08
Anne Murray 		FACS B:T cells - increased
FACS B1a cells - increased
FACS B1b cells - increased
FACS B2 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 effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - increased
FACS macrophages - increased
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
49 UTSW
has photo
 Tmprss6 zorro 15 78439668-78468634 bp (-) 78464552 Unknown 2016-05-13
Peter Jurek 		embryogenesis
growth/size
hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
50 UTSW
has photo
 Tgm3 tortellini 2 130012349-130050399 bp (+) 130024585 Unknown (1;0) 2016-05-13
Stephen Lyon 		immune system
RVFV susceptibility
skin/coat/nails
51 UTSW Naip5 inwood3 13 100211739-100246323 bp (-) 100221903 Autosomal Recessive (2;9) 2016-05-13
Anne Murray 		immune system
Nlrc4 inflammasome: low response
52 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
53 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
54 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
[records 1 to 54 of 54]