|
| MUTANT LINE NMF112 |
Contact JAX-NMF for ordering information
|
| Synopsis: |
|
Circling behavior, slight head tilt; mutants are deaf. |
| Detailed 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. 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.
View video
|
| Abnormal Assays: | Domain(s): |
| Auditory brain stem response (ABR) (view protocol) |
Auditory/Vestibular
|
| Overt movement/posture (view protocol) |
Visible Mutants
|
|
|
MUTANT LINE INFORMATION |
Mutant Line Name
| NMF112 (view more detail at Mutagenesis Center) |
| Gene Symbol |
Cdh23
(view more info on gene)
|
| Gene Name |
Cadherin 23 |
| Allele Symbol |
Cdh23nmf112 |
| Allele Name |
neuroscience mutagenesis facility112 |
| MGI ID |
MGI:2663947 (view MGI record) |
| Originating Mutagenesis Center |
The Jackson Laboratory (contact for ordering information) |
| Mutation Type |
chemically induced mutation (CI)
|
| Strain Designation |
C57BL/6J-Cdh23nmf112/J |
| Video |
view video |
|
|
HERITABILITY AND MAPPING INFORMATION |
| Background Strain |
C57BL/6J |
| Mode of Inheritance |
Recessive |
| Heritability |
Proven |
| Chromosome Location |
10 |
| Mapping Interval |
see Cdh23 |
| Identified Mutation |
|
Map
(Click the image to zoom in.) |
 |
| Image courtesy of MGI | |
|
|
|
STATUS INFORMATION |
| Availability |
- Cryopreserved embryos (EM)
|
| Confirmation Date |
18-Jun-2003 |
| Availability Date |
18-Jun-2003 |
| Off-Shelf Date |
|
| 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. (23) NMF112 have been requested by and distributed to 2 investigators. |
