Pcdh15^m2Btlr

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Species

Mus musculus

Symbol

Pcdh15^m2Btlr

Category

allele

Allele of gene

Pcdh15

Transgenic Constructs

None

Synonyms

• spaz

Description

Sequencing of the mutated gene identified an A to T transversion at base pair 74210425 (v38) on Chromosome 10 in the GenBank genomic region NC_000076 encoding Pcdh15. The mutation corresponds to residue 953 in the ENSMUST00000105426 mRNA sequence within exon 7 of 35 total exons. The mutation results in an aspartic acid (D) to valine (V) substitution at residue 183.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations