STRAIN INFORMATION
Family Identifier
 NMF252
Synonym(s)
 Cdh23nmf252; Cdh23v-10J; B6;CByJ-Cdh23v-10J/J; JR#5016
Synopsis
 Circling behavior, head tilt and tossing observed by weaning age; the mutants are deaf.
Gene Symbol
 Cdh23 (View MGI Record)
Gene
 Cadherin 23
Allele Symbol
 Cdh23nmf252 (View MGI Record)
Allele
 neuroscience mutagenesis facility252
Abnormal Assay(s)
 Assay: Auditory brain stem response (ABR)

   Domain(s): Auditory/Vestibular

Assay: Overt movement/posture

   Domain(s): Visible Mutants
Phenotype Description
 The mutants exhibit circling behavior and a slight head tilt and tossing behavior by weaning age; two mice tested for Auditory brain stem response (at 6 weeks of age) were found to be deaf. Male or female mutants have been produced, and a colony can be maintained through homozygous matings; nmf252 are being back-crossed to the BALB/cByJ background. Because of the map position of this mutation, and its phenotypic similarity to the waltzer mutations, a complementation test has been performed to determine if NMF252 represents an allele of Cdh23. One mating between NMF252 and Cdh23v-2J mice produced 2 mutants in a total of 6 progeny, suggesting that NMF252 represents a new allele of Cdh23. Therefore, NMF252 mutants might be useful for studying neurobiological mechanisms related to Usher syndrome and human deafness.   (View video)
Pathology Report
 Standard pathology on two mutants (49 days of age) revealed no abnormalities; whole ear exam and serial sections of the ears also showed no abnormalities.
HERITABILITY AND MAPPING INFORMATION
Background Strain
 B6;CByJ
Heritability Mode
 Recessive
Heritability Status
 Proven; 2 heterozygote matings produced 4 affected mice in a total of 15 progeny; 1 heterozygote x mutant mating produced 3 affected mice in a total of 7 progeny.
Chromosome
 10
Molecular Interval
 see Cdh23
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. (2) NMF252 have been requested by and distributed to 1 investigator.
Contact e-Mail Address
 nmf-mice@jax.org