Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Former Names C57BL/6J-Pcdh15 nmf19    (Changed: 15-DEC-04 ) C57BL/6J-Pcdh15nmf19    (Changed: 15-DEC-04 ) C57BL/6J-Pcdh15nmf19/J    (Changed: 15-DEC-04 ) Type Chemically Induced Mutation; Coisogenic; Mutant Strain; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse H2 Haplotype b Generation G1pN1 (01-FEB-04) Generation Definitions

Appearance
black
Related Genotype: a/a

Description
The visible phenotype is characterized by circling behavior, head tilt and tossing detectable by weaning age (average age of onset 4.9 +/-1.8 weeks; n=68), and deafness by 14 weeks of age; these mutants might therefore be useful for studying neurobiological mechanisms related to Usher syndrome and deafness. Whole ear exam on one mutant revealed absence of otoconia. Standard pathology work-up and serial sections of ears were performed on two additional mutants (226 or 292 days of age). Serial sections revealed a loss of neurons in the spiral ganglia, as well as a loss of hair cells. The other tissues appeared normal.

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Complementation tests between NMF19 and Pcdh^av-3J(Ames waltzer; Cook and Lane: Re-mutation to Ames waltzer, Mouse Genome 1993; 91, 554) produced affected mice displaying the circling and head tossing behaviors associated with a mutation in Pcdh15 (Alagramam et al., 2001 Nat Genetics), i.e. a heterozygous mating produced 17% affected mice (1/6; single litter), and a homozygous x heterozygous mating produced 50% affected mice (5/10; 2 litters), suggesting nmf19 to be allelic to Pcdh15.

Development
This phenotypic deviant was generated by ethylnitrosourea (ENU) mutagenesis in C57BL/6J males (Stock No. 000664), in the Neuroscience Mutagenesis facility at The Jackson Laboratory. Mutagenized males were crossed to C57BL/6J females; G3 descendants of the mutagenized males were selected for neurological impairment. The mutation is a base substitution (A-G) in the consensus splice donor sequence linked to exon 14, which results in the skipping of exon 14 and the splicing of exon 13-15.

Control Information

	Control
	Heterozygote from the colony
	untyped littermate of mutant homozygote
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Pcdh15

000517	B6.BKS-Pcdh15av-J/J
002078	B6C3Fe a/a-Pcdh15av-2J/J
002072	C57BL/6J-Pcdh15av-3J/J

View Strains carrying other alleles of Pcdh15     (3 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Deafness, Autosomal Recessive 23; DFNB23   (PCDH15) Usher Syndrome, Type ID; USH1D   (PCDH15) Usher Syndrome, Type IF; USH1F   (PCDH15)

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Pcdh15^av-5J/Pcdh15^av-5J

        C57BL/6J-Pcdh15^av-5J/J

• behavior/neurological phenotype
• absent startle reflex
  • no startle response   (MGI Ref ID J:97048)
• circling
  • seen as early as 10 days of age and persists through adulthood   (MGI Ref ID J:97048)
• head tilt
  • discernable by weaning age   (MGI Ref ID J:78134)
• head tossing
  • discernable by weaning age   (MGI Ref ID J:78134)
• impaired righting response   (MGI Ref ID J:97048)
• impaired swimming
  • failed a swimming test at 20 days of age   (MGI Ref ID J:97048)
  • disoriented and failed to come to the surface when placed in the water   (MGI Ref ID J:97048)
• hearing/vestibular/ear phenotype
• abnormal cochlear sensory epithelium morphology
  • total collapse of the cochlear neuroepithelium by age 30 days   (MGI Ref ID J:97048)
• • abnormal inner hair cell stereociliary bundle morphology
    • inner hair cell stereocilia arrangement disrupted at day 2 - 10 but less severely than outer hair cell stereocilia   (MGI Ref ID J:97048)
  • abnormal outer hair cell stereociliary bundle morphology
    • normal "V" or "W" pattern of outer hair cell stereocilia severely disrupted by day 2 to day 10 of life   (MGI Ref ID J:97048)
  • cochlear hair cell degeneration
    • loss of hair cells was noted   (MGI Ref ID J:78134)
  • • cochlear outer hair cell degeneration
      • some loss of outer hair cells by 20 days of age   (MGI Ref ID J:97048)
• abnormal organ of Corti morphology   (MGI Ref ID J:97048)
• • abnormal inner hair cell stereociliary bundle morphology
    • inner hair cell stereocilia arrangement disrupted at day 2 - 10 but less severely than outer hair cell stereocilia   (MGI Ref ID J:97048)
  • abnormal outer hair cell stereociliary bundle morphology
    • normal "V" or "W" pattern of outer hair cell stereocilia severely disrupted by day 2 to day 10 of life   (MGI Ref ID J:97048)
  • cochlear hair cell degeneration
    • loss of hair cells was noted   (MGI Ref ID J:78134)
  • • cochlear outer hair cell degeneration
      • some loss of outer hair cells by 20 days of age   (MGI Ref ID J:97048)
  • organ of Corti degeneration
    • degenerative changes in the organ of Corti and in the inner spiral sulcus by age 30 days   (MGI Ref ID J:97048)
• deafness
  • mice are deaf by 14 weeks of age   (MGI Ref ID J:78134)
• increased or absent threshold for auditory brainstem response
  • no auditory brainstem response at any intensity or frequency of stimulus   (MGI Ref ID J:97048)
• growth/size phenotype
• postnatal growth retardation
  • size reduced by 2 weeks of age   (MGI Ref ID J:97048)
• nervous system phenotype
• abnormal inner hair cell stereociliary bundle morphology
  • inner hair cell stereocilia arrangement disrupted at day 2 - 10 but less severely than outer hair cell stereocilia   (MGI Ref ID J:97048)
• abnormal outer hair cell stereociliary bundle morphology
  • normal "V" or "W" pattern of outer hair cell stereocilia severely disrupted by day 2 to day 10 of life   (MGI Ref ID J:97048)
• cochlear ganglion degeneration
  • loss of neurons in the spiral (cochlear) ganglia   (MGI Ref ID J:78134)
• cochlear hair cell degeneration
  • loss of hair cells was noted   (MGI Ref ID J:78134)
• • cochlear outer hair cell degeneration
    • some loss of outer hair cells by 20 days of age   (MGI Ref ID J:97048)

View Research Applications

Research Applications

This mouse can be used to support research in many areas including:

Pcdh15^av-5J related

Neurobiology Research
Neuroscience Mutagenesis Facility Strain

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Pcdh15av-5J
Allele Name		Ames Waltzer 5 Jackson
Allele Type		Chemically induced (ENU)
Common Name(s)		NMF19; Pcdh15av-nmf19; Pcdh15nmf19; neuroscience mutagenesis facility, 19;
Strain of Origin		C57BL/6J
Gene Symbol and Name		Pcdh15, protocadherin 15
Chromosome		10
Gene Common Name(s)		Ames Waltzer; BB078305; ENSMUSG00000046980; Gm9815; Ush1f; av; expressed sequence BB078305; neuroscience mutagenesis center, 19; neuroscience mutagenesis facility, 19; nmf19; predicted gene 9815; predicted gene, ENSMUSG00000046980;
Molecular Note		RT-PCR and sequencing demonstrated that the coding sequence of exon 13 was spliced to exon 15 due to an A to G substitution of the splice donor sequence of exon 14. [MGI Ref ID J:97048]

Genotyping

Genotyping Information

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Pcdh15^av-5J related

Calderon A; Derr A; Stagner BB; Johnson KR; Martin G; Noben-Trauth K. 2006. Cochlear developmental defect and background-dependent hearing thresholds in the Jackson circler (jc) mutant mouse. Hear Res 221(1-2):44-58. [PubMed: 16962269]  [MGI Ref ID J:113021]

Haywood-Watson RJ 2nd; Ahmed ZM; Kjellstrom S; Bush RA; Takada Y; Hampton LL; Battey JF; Sieving PA; Friedman TB. 2006. Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts. Invest Ophthalmol Vis Sci 47(7):3074-84. [PubMed: 16799054]  [MGI Ref ID J:112247]

JAX Neuroscience Mutagenesis Facility. 2002. Heritable mouse mutants from JAX NMF ENU Mutagenesis Program MGI Direct Data Submission :.  [MGI Ref ID J:78134]

Washington JL 3rd; Pitts D; Wright CG; Erway LC; Davis RR; Alagramam K. 2005. Characterization of a new allele of Ames waltzer generated by ENU mutagenesis. Hear Res 202(1-2):161-9. [PubMed: 15811708]  [MGI Ref ID J:97048]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

Control Information

	Control
	Heterozygote from the colony
	untyped littermate of mutant homozygote
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX^® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX^® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX^® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

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