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EN
ENU-induced T to C transition at base pair 41,376,146 (v38) on chromosome 19, or base pair 8,925 in the GenBank genomic region NC_000085 encoding Pik3ap1. The mutation corresponds to residue 303 in the NM_031376.3 mRNA sequence in exon 2 of 17 total exons. The mutation results in a tyrosine to histidine substitution at position 45 (Y45H) in the B cell adaptor protein (BCAP) protein. (J:272019)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
