Grhl1^m1Btlr

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Species

Mus musculus

Symbol

Grhl1^m1Btlr

Category

allele

Allele of gene

Grhl1

Transgenic Constructs

None

Synonyms

• bandit

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations