ENU-induced A to G transition at base pair 117,612,978 (v38) on chromosome 8, or base pair 114,704 in the GenBank genomic region NC_000074 encoding Plcg2. The mutation corresponds to residue 3,328 in the mRNA sequence NM_172285 within exon 28 of 33 total exons. The mutation results in a methionine to valine substitution at position 1,043 (M1043V) in the phospholipase C gamma 2 (PLC-2) protein. (J:272862)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
2
--

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

References Literature

Title
PMID
Journal
Year
IF
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