IMPC phenotypes (gene matching)
STOCK Srrm4bv/WtsiH
| Status | Available to order |
| EMMA ID | EM:01315 |
| International strain name | STOCK Srrm4bv/WtsiH |
| Alternative name | bv, Bronx Waltzer |
| Strain type | Spontaneous |
| Allele/Transgene symbol | Srrm4bv |
| Gene/Transgene symbol | Srrm4 |
Information from provider
| Provider | Karen Steel |
| Provider affiliation | Wellcome Trust Sanger Institute |
| Genetic information | This is a spontaneous mutation affecting the sensory hair cells of the inner ear and leading to deafness and balance defects with circling and head bobbing. |
| Phenotypic information | This is a hearing impaired, recessive mutant that has a primary defect in the sensory cells of the organ of Corti of the inner ear. Homozygotes show circling and head bobbing and often do not show a Preyer reflex. Heterozygotes and wildtypes are not distinguishable from each other. |
| Breeding history | Originated on an unknown genetic background and maintained on same background within a closed colony for over 30 years. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
MGI phenotypes (allele matching)
- abnormal inner ear morphology / MGI
- circling / MGI
- abnormal pinna reflex / MGI
- impaired balance / MGI
- deafness / MGI
- abnormal vestibular hair cell morphology / MGI
- cochlear ganglion degeneration / MGI
- abnormal pillar cell morphology / MGI
- abnormal crista ampullaris morphology / MGI
- absent pillar cells / MGI
- decreased vestibular hair cell number / MGI
- abnormal utricular macula morphology / MGI
- utricular macular degeneration / MGI
- abnormal cochlear inner hair cell morphology / MGI
- decreased cochlear inner hair cell number / MGI
- absent cochlear inner hair cells / MGI
- cochlear inner hair cell degeneration / MGI
- absent vestibular hair cell stereocilia / MGI
- abnormal cochlear hair cell development / MGI
- abnormal distortion product otoacoustic emission / MGI
- head tossing / MGI
- abnormal hearing electrophysiology / MGI
- abnormal otoacoustic response / MGI
- increased or absent threshold for auditory brainstem response / MGI
MGI phenotypes (gene matching)
- abnormal inner ear morphology / MGI
- tremors / MGI
- abnormal corpus callosum morphology / MGI
- abnormal stratification in cerebral cortex / MGI
- circling / MGI
- abnormal pinna reflex / MGI
- impaired balance / MGI
- cyanosis / MGI
- respiratory distress / MGI
- deafness / MGI
- abnormal innervation / MGI
- abnormal vestibular hair cell morphology / MGI
- cochlear ganglion degeneration / MGI
- abnormal axon guidance / MGI
- no phenotypic analysis / MGI
- premature neuronal precursor differentiation / MGI
- abnormal axon extension / MGI
- abnormal pillar cell morphology / MGI
- abnormal crista ampullaris morphology / MGI
- abnormal embryonic/fetal subventricular zone morphology / MGI
- absent pillar cells / MGI
- decreased vestibular hair cell number / MGI
- abnormal utricular macula morphology / MGI
- utricular macular degeneration / MGI
- abnormal cochlear inner hair cell morphology / MGI
- decreased cochlear inner hair cell number / MGI
- absent cochlear inner hair cells / MGI
- cochlear inner hair cell degeneration / MGI
- absent vestibular hair cell stereocilia / MGI
- abnormal cochlear hair cell development / MGI
- abnormal distortion product otoacoustic emission / MGI
- decreased neuronal precursor cell number / MGI
- head tilt / MGI
- head tossing / MGI
- abnormal hearing electrophysiology / MGI
- abnormal otoacoustic response / MGI
- abnormal neurite morphology / MGI
- decreased survivor rate / MGI
- decreased neuron number / MGI
- neonatal lethality, incomplete penetrance / MGI
- increased or absent threshold for auditory brainstem response / MGI
- abnormal phrenic nerve innervation pattern to diaphragm / MGI
Literature references
- Localization of the bronx waltzer (bv) deafness gene to mouse chromosome 5.;Bussoli T J, Kelly A, Steel K P, ;1997;Mammalian genome : official journal of the International Mammalian Genome Society;8;714-7; 9321462
- The inner ear in Bronx waltzer mice.;Deol M S, ;1981;Acta oto-laryngologica;92;331-6; 7324900
- Early development and degeneration of vestibular hair cells in bronx waltzer mutant mice.;Cheong Michael A, Steel Karen P, ;2002;Hearing research;164;179-89; 11950537
- Characteristic findings of auditory brainstem response and otoacoustic emission in the Bronx waltzer mouse.;Inagaki Masumi, Kon Kaori, Suzuki Seiko, Kobayashi Naoko, Kaga Makiko, Nanba Eiji, ;2006;Brain & development;28;617-24; 16730938
- Influence of neurotrophins on the synaptogenesis of inner hair cells in the deaf Bronx waltzer (bv) mouse organ of Corti in culture.;Sobkowicz Hanna M, August Benjamin K, Slapnick Susan M, ;2002;International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience;20;537-54; 12485622
- Cochlear inner hair cells exist transiently in the fetal Bronx Waltzer (bv/bv) mouse.;Whitlon D S, Gabel C, Zhang X, ;1996;The Journal of comparative neurology;364;515-522; 8820880