STRAIN INFORMATION
Family Identifier
 NMF112
Synonym(s)
 Cdh23nmf112; Cdh23v-8J; C57BL/6J-Cdh23 v-8J/J; JR#4764
Synopsis
 Circling behavior, slight head tilt; mutants are deaf.
Gene Symbol
 Cdh23 (View MGI Record)
Gene
 Cadherin 23
Allele Symbol
 Cdh23nmf112 (View MGI Record)
Allele
 neuroscience mutagenesis facility112
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 were initially detected based on abnormal Pre-pulse-inhibition test results. They were subsequently observed to exhibit a slight head tilt and circling behavior (onset at approximately 4 weeks of age), and the mutant line was established based on the overt phenotype. Testing of Auditory brainstem responses revealed the mutants (n=4) to be deaf. The vestibular abnormality of nmf112 was mapped as a recessive phenotype in 19 affected and 20 unaffected (C57BL/6J-nmf112 x BALB/cByJ) F2 intercross mice, and the best linkage was to D10Mit138 (LOD = 7.0) and D10Mit15 (LOD = 6.1). Because of the map position of this mutation and its phenotypic similarity to the waltzer mutations, a series of complementation tests was performed to determine if allelic relationships exist between NMF112, NMF181, NMF252 and Cdh23. The results showed NMF112 to be an allele of NMF181 (one mating produced 2 mutants in a total of 7 progeny), of NMF252 (one mating produced 2 mutants in a total of 5 progeny) and therefore of Cdh23, since NMF252 has been identified as a new allele of Cdh23. This information suggests therefore that NMF112 mutants might be useful for studying neurobiological mechanisms related to Usher syndrome and human deafness.   (View video)
Pathology Report
 Standard pathology work-up on one mutant that died while undergoing ECT testing (94 days of age) showed signs of otitis. The bones of the inner ear had degenerated, possibly due to chronic otitis. Standard pathological work-up and serial sections of ears on two additional mutants (38 days of age) showed no abnormalities.
HERITABILITY AND MAPPING INFORMATION
Background Strain
 C57BL/6J
Heritability Mode
 Recessive
Heritability Status
 Proven; 3 heterozygous matings produced 6 affected mice.
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. (23) NMF112 have been requested by and distributed to 2 investigators.
Contact e-Mail Address
 nmf-mice@jax.org