Phenotypic Mutations

6 mutations affecting 6 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 6 of 6] per page Full List
 



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Verification Probability

Phenotypic Category

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1 UTSW Prkcd 0.362 Rigged 14 30595354-30626210 bp (-) 30610301 Autosomal Recessive (1;5)
Autosomal Semidominant (2;9)
0.885 2019-10-23
Diantha La Vine
DSS: sensitive day 10
DSS: sensitive day 7
FACS NK cells - decreased
A ⇒ G start codon destroyed probably null 0.988
2 UTSW Pax5 1.000 glacier2 4 44524757-44710487 bp (-) 44710407 Autosomal Recessive (13;215)
Autosomal Semidominant (2;32)
0.873 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - decreased
FACS CD4+ T cells - increased
FACS CD44+ CD4 MFI - decreased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - decreased
FACS IgM+ B cells - decreased
FACS 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
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
A ⇒ G start codon destroyed probably null 0.960
3 UTSW Mlh1 0.000 andalusia2 9 111228228-111271791 bp (-) 111271523 Autosomal Recessive (2;11) 0.761 2019-09-04
Anne Murray
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - decreased
A ⇒ C start codon destroyed probably null 0.933
4 UTSW Il2rb 0.113 flybase 15 78479256-78495271 bp (-) 78491848 Autosomal Recessive (69;648)
Autosomal Semidominant (1;4)
0.953 2019-09-04
Diantha La Vine
Body Weight (BP, z-score, female) - decreased
Body Weight (DSS Female) - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
Body Weight (DSS, z-score, female) - decreased
Bone: Tibia Length (AI, residual) - decreased
Bone: Tibia Length (AI, residual, female) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B220 MFI - 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 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 IgM+ B cells - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
NK cell response - decreased
NK killing - decreased
OVA-specific IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - increased
A ⇒ G start codon destroyed probably null 0.663
5 UTSW Zap70 0.247 waterfowl 1 36761798-36782818 bp (+) 36770811 Unknown (8;0) no linkage results 2019-03-05
Diantha La Vine
FACS B:T cells - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells - decreased
FACS T cells - decreased
A ⇒ G start codon destroyed probably null 0.025
6 UTSW Smcr8 0.000 patriot2 11 60777524-60788287 bp (+) 60778028 Autosomal Recessive (3;16) 0.963 2019-01-07
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B220 MFI - increased
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 - 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 naive CD8 T cells in CD8 T cells - decreased
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: TNF production by macrophages
total IgE level - increased
A ⇒ G start codon destroyed probably null 0.999
[records 1 to 6 of 6]