IMPC phenotypes (gene matching)
- increased thermal nociceptive threshold / IMPC
STOCK Whrnwi/H
| Status | Available to order |
| EMMA ID | EM:01296 |
| 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