Pcdh15av-6J
Spontaneous Allele Detail
|
|
| Symbol: |
Pcdh15av-6J |
| Name: |
protocadherin 15; Ames waltzer 6 Jackson |
| MGI ID: |
MGI:3505691 |
| Synonyms: |
6J, av6J, Pcdh15av-6J |
| Gene: |
Pcdh15 Location: Chr10:72935174-74485569 bp, + strand Genetic Position: Chr10, 37.43 cM
|
| Alliance: |
Pcdh15av-6J page
|
|
|
|
| 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 |
|
|
| 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) |
|---|
Loading... | | | | |
|
| Phenotypes: |
| Affected Systems |
|
|
|
behavior/neurological
|
√
|
|
absent startle reflex
|
√
|
|
head tossing
|
√
|
|
abnormal gait
|
√
|
|
bidirectional circling
|
√
|
growth/size/body
|
√
|
|
decreased body size
|
√
|
hearing/vestibular/ear
|
√
|
|
hearing/vestibular/ear phenotype
|
N
|
|
abnormal cochlear sensory epithelium morphology
|
√
|
|
abnormal cochlear hair cell morphology
|
√
|
|
abnormal outer hair cell stereociliary bundle morphology
|
√
|
|
abnormal orientation of outer hair cell stereociliary bundles
|
√
|
|
decreased outer hair cell stereocilia number
|
√
|
|
cochlear inner hair cell degeneration
|
√
|
|
cochlear outer hair cell degeneration
|
√
|
|
organ of Corti degeneration
|
√
|
|
increased or absent threshold for auditory brainstem response
|
√
|
|
deafness
|
√
|
nervous system
|
√
|
|
abnormal cochlear hair cell morphology
|
√
|
|
abnormal outer hair cell stereociliary bundle morphology
|
√
|
|
abnormal orientation of outer hair cell stereociliary bundles
|
√
|
|
decreased outer hair cell stereocilia number
|
√
|
|
cochlear inner hair cell degeneration
|
√
|
|
cochlear outer hair cell degeneration
|
√
|
|
cochlear ganglion hypoplasia
|
√
|
|
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: 0 strains available
Cell Lines: 0 lines available
|
| Carrying any Pcdh15 Mutation: |
135 strains or lines available
|
|
| 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) |
|
Analysis Tools
