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| MUTANT LINE NMF181 |
Contact JAX-NMF for ordering information
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| Synopsis: |
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Circling, head tossing behavior; the mutants are deaf. |
| Detailed Phenotype Description: |
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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. 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.
View video
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| Abnormal Assays: | Domain(s): |
| Auditory brain stem response (ABR) (view protocol) |
Auditory/Vestibular
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| Overt movement/posture (view protocol) |
Visible Mutants
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MUTANT LINE INFORMATION |
Mutant Line Name
| NMF181 (view more detail at Mutagenesis Center) |
| Gene Symbol |
Cdh23
(view more info on gene)
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| Gene Name |
Cadherin 23 |
| Allele Symbol |
Cdh23nmf181 |
| Allele Name |
neuroscience mutagenesis facility181 |
| MGI ID |
MGI:2680541 (view MGI record) |
| Originating Mutagenesis Center |
The Jackson Laboratory (contact for ordering information) |
| Mutation Type |
chemically induced mutation (CI)
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| Strain Designation |
C57BL/6J-Cdh23nmf181/J |
| Video |
view video |
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HERITABILITY AND MAPPING INFORMATION |
| Background Strain |
C57BL/6J |
| Mode of Inheritance |
Recessive |
| Heritability |
Proven |
| Chromosome Location |
10 |
| Mapping Interval |
see Cdh23 |
| Identified Mutation |
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Map
(Click the image to zoom in.) |
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| Image courtesy of MGI | |
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STATUS INFORMATION |
| Availability |
- Cryopreserved embryos (EM)
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| Confirmation Date |
07-Nov-2003 |
| Availability Date |
07-Nov-2003 |
| Off-Shelf Date |
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| Line History 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. |
