STRAIN INFORMATION
Family Identifier
 NMF19
Synonym(s)
 Pcdh15nmf19; Pcdh15av-5J; C57BL/6J-Pcdh15av-5J/J; JR#4156
Synopsis
 Circling behavior by weaning age, deaf by 14 weeks of age; reduced grip strength.
Gene Symbol
 Pcdh15 (View MGI Record)
Gene
 Protocadherin15
Allele Symbol
 Pcdh15nmf19 (View MGI Record)
Allele
 neuroscience mutagenesis facility19
Abnormal Assay(s)
 Assay: Auditory brain stem response (ABR)

   Domain(s): Auditory/Vestibular

Assay: Grip strength

   Domain(s): Movement/Neuromuscular Function

Assay: Overt movement/posture

   Domain(s): Visible Mutants
Phenotype 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. Homozygotes are viable, but are poor breeders. Complementation tests between NMF19 and Pcdh15av-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. The same laboratotry characterized the nmf19 mutation as 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; for further details see Washington et al., 2005.   (View video)
Pathology Report
 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.
HERITABILITY AND MAPPING INFORMATION
Background Strain
 C57BL/6J
Heritability Mode
 Recessive
Heritability Status
 Proven; 2 heterozygote matings produced 5 affected mice in a total of 20 progeny.
Chromosome
 10
Map
STATUS INFORMATION
Mutant Status
 Cryopreserved Embryos
Comments
 Please note: The majority of frozen NMF embryos is obtained through matings between homozygous (or heterozygous) mutant males and wild-type females; if recovery of mutants is requested, the mice will be shipped as soon as possible following wean without further phenotype or genotype testing. NMF embryos are supplied subject to the General Terms and Conditions of Sale posted at www.jaxmice.jax.org. For prices or further information, please inquire at srp@jax.org or nmf-mice@jax.org. (28) NMF19 have been requested by and distributed to 6 investigators.
Contact e-Mail Address
 nmf-mice@jax.org