IMPC phenotypes (gene matching)
- increased thermal nociceptive threshold / IMPC
STOCK Whrnwi/H
| Status | Available to order |
| EMMA ID | EM:01296 |
| Citation information | RRID:IMSR_EM:01296 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | STOCK Whrnwi/H |
| Alternative name | wi |
| Strain type | Spontaneous |
| Allele/Transgene symbol | Whrnwi |
| Gene/Transgene symbol | Whrn |
Information from provider
| Provider | Philomena Mburu |
| Provider affiliation | MRC Mammalian Genetics Unit |
| Phenotypic information | Homozygotes are deaf, show head tossing, circling and pale agouti colour. Heterozygotes and wild-type are both hearing and do not head toss or circle. |
| References |
|
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
- Usher syndrome type 2 / Orphanet_231178
MGI phenotypes (allele matching)
- abnormal cochlear inner hair cell morphology / MGI
- short inner hair cell stereocilia / MGI
- circling / MGI
- head bobbing / MGI
- impaired righting response / MGI
- deafness / MGI
- absent cochlear microphonics / MGI
- absent cochlear nerve compound action potential / MGI
- short vestibular hair cell stereocilia / MGI
- short cochlear hair cell stereocilia / MGI
- abnormal outer hair cell stereociliary bundle morphology / MGI
- abnormal auditory summating potential / MGI
- increased or absent threshold for auditory brainstem response / MGI
- decreased leukocyte cell number / MGI
- enlarged adrenal glands / MGI
- decreased body weight / MGI
- abnormal maternal nurturing / MGI
- hyperactivity / MGI
- abnormal gait / MGI
- impaired swimming / MGI
- increased circulating corticosterone level / MGI
- increased heart weight / MGI
- increased liver weight / MGI
- increased kidney weight / MGI
- cochlear hair cell degeneration / MGI
- cochlear inner hair cell degeneration / MGI
- abnormal cochlear outer hair cell morphology / MGI
- cochlear outer hair cell degeneration / MGI
- abnormal cochlear hair cell stereociliary bundle morphology / MGI
- decreased outer hair cell stereocilia number / MGI
- short outer hair cell stereocilia / MGI
- decreased uterus weight / MGI
- decreased seminal vesicle weight / MGI
- decreased thymus weight / MGI
- increased oxygen consumption / MGI
- head tossing / MGI
- decreased glycogen level / MGI
- decreased circulating glucose level / MGI
- decreased total body fat amount / MGI
MGI phenotypes (gene matching)
- decreased leukocyte cell number / MGI
- enlarged adrenal glands / MGI
- abnormal retinal photoreceptor morphology / MGI
- decreased body weight / MGI
- retinal degeneration / MGI
- abnormal maternal nurturing / MGI
- circling / MGI
- hyperactivity / MGI
- abnormal gait / MGI
- head bobbing / MGI
- impaired swimming / MGI
- impaired righting response / MGI
- increased circulating corticosterone level / MGI
- deafness / MGI
- increased thermal nociceptive threshold / MGI
- increased heart weight / MGI
- increased liver weight / MGI
- increased kidney weight / MGI
- abnormal rod electrophysiology / MGI
- abnormal cone electrophysiology / MGI
- cochlear hair cell degeneration / MGI
- abnormal cochlear inner hair cell morphology / MGI
- cochlear inner hair cell degeneration / MGI
- abnormal cochlear outer hair cell morphology / MGI
- cochlear outer hair cell degeneration / MGI
- decreased cochlear hair cell number / MGI
- absent cochlear microphonics / MGI
- absent cochlear nerve compound action potential / MGI
- abnormal cochlear outer hair cell physiology / MGI
- abnormal vestibular hair cell stereociliary bundle morphology / MGI
- short vestibular hair cell stereocilia / MGI
- abnormal cochlear hair cell stereociliary bundle morphology / MGI
- short cochlear hair cell stereocilia / MGI
- abnormal outer hair cell stereociliary bundle morphology / MGI
- decreased outer hair cell stereocilia number / MGI
- short outer hair cell stereocilia / MGI
- short inner hair cell stereocilia / MGI
- abnormal cochlear hair bundle transient lateral links morphology / MGI
- abnormal distortion product otoacoustic emission / MGI
- absent distortion product otoacoustic emissions / MGI
- decreased uterus weight / MGI
- decreased seminal vesicle weight / MGI
- decreased thymus weight / MGI
- increased oxygen consumption / MGI
- head tossing / MGI
- hearing/vestibular/ear phenotype / MGI
- behavior/neurological phenotype / MGI
- decreased glycogen level / MGI
- decreased circulating glucose level / MGI
- impaired hearing / MGI
- abnormal cochlear frequency tuning / MGI
- abnormal auditory summating potential / MGI
- thin retinal outer nuclear layer / MGI
- short photoreceptor outer segment / MGI
- decreased total body fat amount / MGI
- increased or absent threshold for auditory brainstem response / MGI
Literature references
- Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.;Mburu Philomena, Mustapha Mirna, Varela Anabel, Weil Dominique, El-Amraoui Aziz, Holme Ralph H, Rump Andreas, Hardisty Rachel E, Blanchard Stéphane, Coimbra Roney S, Perfettini Isabelle, Parkinson Nick, Mallon Ann-Marie, Glenister Pete, Rogers Mike J, Paige Adam J, Moir Lee, Clay Jo, Rosenthal Andre, Liu Xue Zhong, Blanco Gonzalo, Steel Karen P, Petit Christine, Brown Steve D M, ;2003;Nature genetics;34;421-8; 12833159
- Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia.;Ebrahim Seham, Ingham Neil J, Lewis Morag A, Rogers Michael J C, Cui Runjia, Kachar Bechara, Pass Johanna C, Steel Karen P, ;2016;Cell reports;15;935-943; 27117407