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EN
ENU-induced A to G transition at base pair 44,679,526 (v38) on chromosome 4, or base pair 30,915 in the GenBank genomic region NC_000070. The mutation corresponds to residue 804 in the mRNA sequence NM_008782 within exon 5 of 10 total exons. The mutation results in an aspartic acid to glycine substitution at position 173 (D173G) in the canonical variant of the PAX5 protein. (J:265141)
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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References Literature
Title
PMID
Journal
Year
IF
