Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Pcdh15m3Btlr
Name:	protocadherin 15; mutation 3, Bruce Beutler
MGI ID:	MGI:5527537
Synonyms:	mcduck
Gene:	Pcdh15  Location: Chr10:72935174-74485569 bp, + strand  Genetic Position: Chr10, 37.43 cM
Alliance:	Pcdh15m3Btlr page

Strain of Origin:	C57BL/6J
Project Collection:	Beutler Mutagenetix

Allele Type:    Chemically induced (ENU) Mutation:    Single point mutation   Mutation details: ENU mutagenesis induced a T to A transversion at base pair 74,626,844 on chromosome 10, corresponding to base pair 1,526,630 in GenBank genomic region NC_000076. The mutation is located in the donor splice site of intron 33, two nucleotides from the previous exon. The effect of the mutation at the cDNA and protein level is unknown. One possibility is that aberrant splicing may result in the skipping of the 156 base pair exon 33 and splicing from exon 32 to exon 34. The aberrant splicing would lead to a deletion of 52 amino acids as well as a frameshift and subsequent coding of a premature stop codon at amino acid 1506. Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Pcdh15 Mutation:	132 strains or lines available

Original:	J:203622 Daniel C, et al., Direct data submission for mcduck. MGI Direct Data Submission. 2014;
All:	1 reference(s)