The mutation is an A to T transversion at position 25,262,891 of the C57BL/6J mouse genomic DNA sequence for Chr 12 (NCBI Genbank Build 37.1), within exon 3 (exons 1-3 are not included in the Genbank annotation of the genomic DNA sequence of Grhl1, region NC_000078). Normally, two isoforms of the protein are expressed due to alternative mRNA splicing. The mutation in this allele corresponds to nucleotide 366 of the mRNA sequence for isoform 1; it converts the triplet encoding arginine at codon 72 to a termination codon (R72Ter). As the mutation is in exon 3, which is absent from isoform 2, it is predicted not to affect isoform 2. (J:157821)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Not Specified
1
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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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