ENU-induced G to A transition at base pair 138,067,885 (v38) on chromosome 1, or base pair 107,872 in the GenBank genomic region NC_000067 encoding Ptprc. The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in the use of a cryptic site in intron 31. The resulting transcript has 29-base pair insertion of intron 31, which would cause an in-frame insertion of 10 aberrant amino acids after amino acid 1099 of the protein (which is normally 1293 amino acids long). (J:274863)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Other (see notes)
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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