STRAIN INFORMATION
Family Identifier
 NMF181
Synonym(s)
 Cdh23nmf181; Cdh23v-9J; C57BL/6J-Cdh23v-9J/J; JR#4819
Synopsis
 Circling, head tossing behavior; the mutants are deaf.
Gene Symbol
 Cdh23 (View MGI Record)
Gene
 Cadherin 23
Allele Symbol
 Cdh23nmf181 (View MGI Record)
Allele
 neuroscience mutagenesis facility181
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 and head tossing behavior by weaning age (at 3-4 weeks), and three animals tested at four weeks of age for Auditory brain stem response were deaf. Mutants of either gender have been produced and the colony is maintained through regular breeding. Because of the map position of this mutation, and its phenotypic similarity to the waltzer mutations, a series of complementation tests has been performed to determine if allelic relationships exist between NMF181, NMF112, NMF252 and Cdh23. The results showed NMF181 to be an allele of NMF112 (one mating produced 2 mutants in a total of 7 progeny), of NMF252 (one mating produced 2 mutants in a total of 8 progeny) and therefore of Cdh23, since NMF252 has been identified as a new allele of Cdh23. This information suggests therefore that NMF181 mutants might be useful for studying neurobiological mechanisms related to Usher syndrome and human deafness.   (View video)
Pathology Report
 Serial sections of the ears of two mutants (24 and 29 days of age) and additional whole ear histology on one mutant (33 days of age) revealed no abnormalities. Standard pathology work-up on all three animals showed no other abnormalities.
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 15 progeny, and 2 heterozygote x homozygote matings produced 12 affected mice in a total of 17 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. (21) NMF181 have been requested by and distributed to 2 investigators.
Contact e-Mail Address
 nmf-mice@jax.org