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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pcdh15av-Tg2742Rpw
transgenic, nonhomologous insert 2742, Richard P Woychik
MGI:2151877
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pcdh15av-Tg2742Rpw/Pcdh15av-Tg2742Rpw FVB/N-Pcdh15av-Tg2742Rpw MGI:3796519


Genotype
MGI:3796519
hm1
Allelic
Composition
Pcdh15av-Tg2742Rpw/Pcdh15av-Tg2742Rpw
Genetic
Background
FVB/N-Pcdh15av-Tg2742Rpw
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pcdh15av-Tg2742Rpw mutation (0 available); any Pcdh15 mutation (132 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• homozygotes fail to orient in water

homeostasis/metabolism
N
• unlike the av-5J allele, mice homozygous for this allele were not found to have low plasma triglycerides or cholesterol

hearing/vestibular/ear
N
• the stria vascularis is mostly normal and Reissner's membrane and the membranous wall of the saccule are correctly positioned
• electron micrographs show that the inner and outer hair cell stereocilia lack the standard V configuration
• at approximately 1 year of age the organ of Corti is almost entirely missing throughout all cochlear turns, although occasionally remnants are found usually in the apical cochlear turn
• degeneration of the saccular neuroepithelium (J:56493)
• sensory cells are lost from the saccular macula by 30 to 40 days of age and there is total loss of the saccular neuroepithelium between 7 months to a year, but the crustal and utricular macula and corresponding nerve fibers are normal even at 1 year (J:148677)
• by 7 months to 1 year
• occassional malformation of utricular otoconia (J:56493)
• sparsely distributed abnormally large otoconia are sometimes found overlying the utricular macula (J:56493)
• saccular otoconia are normal at 10 days of age, when homozygotes begin to display circling, but degenerate after 25 days of age with the crystalline layer of the saccular otoconial membrane becoming thin and the crystals demineralizing and breaking apart (J:148677)
• all homozygotes failed to orient in water and lacked linear vestibular evoked potential

nervous system
• electron micrographs show that the inner and outer hair cell stereocilia lack the standard V configuration





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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory