Pcdh15^av-3J
Spontaneous Allele Detail

Summary

• Symbol: Pcdh15^av-3J
• Name: protocadherin 15; Ames waltzer 3 Jackson
• MGI ID: MGI:1856394
• Synonyms: av^3J, Pcdh15^av-3J
• Gene: Pcdh15 Location: Chr10:72935174-74485569 bp, + strand Genetic Position: Chr10, 37.43 cM
• Alliance: Pcdh15^av-3J page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• Mutation details: An insertion of a single A nucleotide after position 4521 in the coding region results in a frameshift and a premature stop codon. Any encoded protein is predicted to lack a cytoplasmic domain. (J:66738)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	1 assay results
In Structures Affected by this Mutation:	5 anatomical structure(s)

Find Mice (IMSR)

• 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

Notes

These homozygotes, like Pcdh15^av-J homozygotes, can swim, though with difficulty. They tend to circle while afloat (J:28688).

References

• Original: J:28688 Cook S, et al., Re-mutation to Ames waltzer. Mouse Genome. 1993;91:554
• All: 33 reference(s)