Pcdh15^av-2J
Spontaneous Allele Detail

Summary

• Symbol: Pcdh15^av-2J
• Name: protocadherin 15; Ames waltzer 2 Jackson
• MGI ID: MGI:1856396
• Synonyms: av^2J
• Gene: Pcdh15 Location: Chr10:72935174-74485569 bp, + strand Genetic Position: Chr10, 37.43 cM
• Alliance: Pcdh15^av-2J page

Mutation origin

• Strain of Origin: linkage stock

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: A deletion of 81 bp in the coding sequence near the 5' end of the gene is predicted to eliminate 27 amino acids of the extracellular domain of the encoded protein. (J:66738)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 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: 135 strains or lines available

Notes

Homozygotes for Pcdh15^av-2J are more severely afflicted than those for other J remutations. Pcdh15^av-2J homozygotes become disoriented and sink in swim tests (J:28688).

References

• Original: J:28688 Cook S, et al., Re-mutation to Ames waltzer. Mouse Genome. 1993;91:554
• All: 8 reference(s)