Pcdh15^roda
Chemically induced Allele Detail

Summary

• Symbol: Pcdh15^roda
• Name: protocadherin 15; rodador
• MGI ID: MGI:5704141
• Gene: Pcdh15 Location: Chr10:72935174-74485569 bp, + strand Genetic Position: Chr10, 37.43 cM
• Alliance: Pcdh15^roda page

Mutation origin

• Strain of Origin: BALB/c

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced an A to G transition in intron 23, creating a novel intronic acceptor splice site. The truncated product lacks two cadherin domains, and the transmembrane and cytoplasmic domains.
• Inheritance: Recessive

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1  Disease Model	Pcdh15^roda/Pcdh15^roda	BALB/c-Pcdh15^roda

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
behavior/neurological	√
impaired balance	√
head bobbing	√
circling	√
cellular	√
abnormal inner hair cell kinocilium location or orientation	√
hearing/vestibular/ear	√
abnormal cochlear hair cell stereociliary bundle morphology	√
abnormal inner hair cell kinocilium location or orientation	√
decreased inner hair cell stereocilia number	√
fused inner hair cell stereocilia	√
cochlear hair cell degeneration	√
deafness	√
nervous system	√
abnormal cochlear hair cell stereociliary bundle morphology	√
abnormal inner hair cell kinocilium location or orientation	√
decreased inner hair cell stereocilia number	√
fused inner hair cell stereocilia	√
cochlear hair cell degeneration	√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1
autosomal recessive nonsyndromic deafness 23 IDs autosomal recessive nonsyndromic deafness 23       DOID:0110481 ICD10CM:H90.3 OMIM:609533 Close	√
Usher syndrome type 1F IDs Usher syndrome type 1F       DOID:0110832 ICD10CM:H35.5 OMIM:602083 Close	√

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

Notes

This allele may be associated with Cdh23.

References

• Original: J:227974 Massironi SM, et al., Inducing mutations in the mouse genome with the chemical mutagen ethylnitrosourea. Braz J Med Biol Res. 2006 Sep;39(9):1217-26
• All: 2 reference(s)