Pcdh15^av-6J
Spontaneous Allele Detail

Summary

• Symbol: Pcdh15^av-6J
• Name: protocadherin 15; Ames waltzer 6 Jackson
• MGI ID: MGI:3505691
• Synonyms: 6J, av6J, Pcdh15^av-6J
• Gene: Pcdh15 Location: Chr10:72935174-74485569 bp, + strand Genetic Position: Chr10, 37.43 cM
• Alliance: Pcdh15^av-6J page

Mutation origin

• Strain of Origin: B6.129P2-Nos2^tm1Lau/J

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: Sequence analysis on RT-PCR products of mRNA revealed that exon 21 was spliced to exon 23 in frame. The entire coding sequence of exon 22 was absent in mice homozygous for the av6J allele. Protein encoded by this allele would be lacking the extracellular cadherin protein domain due to the loss of 47 amino acids. An allelism test confirmed that the mutation was a new mutation of Pcdh15. (J:111661)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Pcdh15 Mutation: 135 strains or lines available

References

• Original: J:111661 Zheng QY, et al., A new spontaneous mutation in the mouse protocadherin 15 gene. Hear Res. 2006 Sep;219(1-2):110-20
• All: 2 reference(s)