ENU treatment induced a T-to-C transition at base pair 138,094,299 (GRCm38) on chromosome 1, or base pair 76,276 in the GenBank genomic region NC_000067. The mutation corresponds to residue 1,669 in the mRNA sequence NM_001111316 within exon 15 of 33 total exons, residue 1,350 in the mRNA sequence NM_011210 within exon 12 of 30 total exons, and residue 1,278 in the mRNA sequence NM_001268286 within exon 11 of 29 total exons. The mutation results in a serine (S) to proline (P) substitution at position 544 (p.S544P) in variant 1 of the PTPRC protein, a p.S405P substitution in variant 2, and a p.S381P substitution in variant 3. (J:254899)

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

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PMID
Journal
Year
IF
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