These mice carry an ENU-induced mutation and exhibit deafness, a circling behavior, and a slight head tilt and tossing.
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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. 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. 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. Male or female mutants have been produced, and a colony can be maintained through homozygous matings.
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. Nmf252 was back-crossed to the BALB/cByJ background.
|Allele Name||waltzer 10 Jackson|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||Cdh23nmf252; neuroscience mutagenesis facility, 252; NMF252|
|Gene Symbol and Name||Cdh23, cadherin 23 (otocadherin)|
|Strain of Origin||C57BL/6J|
|Molecular Note||The mutant nmf252 has a similar phenotype and mapping position to the waltzer mutant. Complementation testing between nmf252 and Cdh23v-2J confirmed the allelic relationship.|
When using the waltzer 10 Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #005016 in your Materials and Methods section.