Phenotypic Mutations

9 mutations affecting 9 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 9 of 9] 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?

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1 UTSW
has video
Agtpbp1 rio 13 59449537-59585227 bp (-) 59525241 Unknown 2018-05-22
Anne Murray
behavior/neurological
growth/size
2 UTSW
has photo
Tmprss6 mask 15 78439668-78468634 bp (-) 78464455 Unknown 2018-03-06
Diantha La Vine
embryogenesis
growth/size
hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
3 UTSW Itgb2 Joker 10 77530252-77565708 bp (+) 77549849 Unknown (2;0) 2017-08-13
Diantha La Vine
hematopoietic system
immune system
NK cell response - decreased
4 UTSW Tirap torpid 9 35184551-35200291 bp (-) 35198707 Unknown (1;0) 2017-03-23
Katherine Timer
immune system
TLR signaling defect: TNF production by macrophages
5 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
6 UTSW Ern2 ernie3 7 122169893-122186216 bp (-) 122173819 Autosomal Recessive (2;6) 2016-11-10
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
7 UTSW Jak3 thistle 8 71676296-71690575 bp (+) 71685383 Autosomal Recessive (30;309)
 Autosomal Semidominant (1;4)
2016-08-12
Bruce Beutler
Body Weight (DSS Female) - decreased
Circadian rhythm
Circadian Tau Chi Squared Periodogram - increased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
FACS CD11c+ DCs - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 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 CD8a+ DCs (gated in CD11c+ 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 - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - decreased
FACS NK T cells - decreased
FACS T cells - decreased
IgG1 response to a Cysteine Protease (Papain) - decreased
immune system
impaired response to dsDNA- type I IFN production by macrophages
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
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - decreased
8 UTSW Chrne pip-squeak 11 70614883-70619216 bp (-) 70615130 Autosomal Recessive (10;76) 2016-05-13
Anne Murray
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
FACS neutrophils - increased
growth/size
immune system
impaired response to dsDNA- type I IFN production by macrophages
MTT Value of PECs - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: TNF production by macrophages
total IgE level - increased
9 UTSW
has photo
Rc3h1 curlyfry 1 160906418-160974978 bp (+) 160959399 Unknown (1;0)
 Autosomal Recessive (3;16)

 Autosomal Semidominant (3;13)
2016-05-13
Anne Murray
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS effector memory CD8 T cells in CD8 T cells - increased
growth/size
immune system
limbs/digits/tail phenotype
[records 1 to 9 of 9]