IMPC phenotypes (allele matching)
- increased thermal nociceptive threshold / IMPC
C57BL/6NTac-Whrntm1a(EUCOMM)Wtsi/WtsiH
| Status | Available to order |
| EMMA ID | EM:05873 |
| International strain name | C57BL/6NTac-Whrntm1a(EUCOMM)Wtsi/WtsiH |
| Alternative name | EPD0200_4_C04 |
| Strain type | Targeted Mutant Strains |
| Allele/Transgene symbol | Whrntm1a(EUCOMM)Wtsi |
| Gene/Transgene symbol | Whrn |
| Disclaimer | Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
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Information from provider
| Provider | Wellcome Trust Sanger Institute |
| Provider affiliation | Wellcome Trust Sanger Institute |
| Genetic information | This mouse line originates from EUCOMM ES clone EPD0200_4_C04. For further details on the construction of this clone see the page at the IMPC portal. |
| Phenotypic information | Potential phenotyping data in the IMPC portal |
| References |
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Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
| Animals used for archiving | homozygous C57BL/6NTac |
| Breeding at archiving centre | Received as frozen sperm. |
Disease and phenotype information
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
IMPC phenotypes (gene matching)
- increased thermal nociceptive threshold / IMPC
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
- Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.;White Jacqueline K, Gerdin Anna-Karin, Karp Natasha A, Ryder Ed, Buljan Marija, Bussell James N, Salisbury Jennifer, Clare Simon, Ingham Neil J, Podrini Christine, Houghton Richard, Estabel Jeanne, Bottomley Joanna R, Melvin David G, Sunter David, Adams Niels C, null null, Tannahill David, Logan Darren W, Macarthur Daniel G, Flint Jonathan, Mahajan Vinit B, Tsang Stephen H, Smyth Ian, Watt Fiona M, Skarnes William C, Dougan Gordon, Adams David J, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, ;2013;Cell;154;452-64; 23870131
- 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
- Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.;Mathur Pranav, Yang Jun, ;2015;Biochimica et biophysica acta;1852;406-20; 25481835
- A study of whirlin isoforms in the mouse vestibular system suggests potential vestibular dysfunction in DFNB31-deficient patients.;Mathur Pranav Dinesh, Vijayakumar Sarath, Vashist Deepti, Jones Sherri M, Jones Timothy A, Yang Jun, ;2015;Human molecular genetics;24;7017-30; 26420843
- Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31.;Mathur Pranav Dinesh, Zou Junhuang, Zheng Tihua, Almishaal Ali, Wang Yong, Chen Qian, Wang Le, Vashist Deepti, Brown Steve, Park Albert, Yang Jun, ;2015;Human molecular genetics;24;6213-28; 26307081
- Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina.;Mathur Pranav Dinesh, Yang Jun, ;2019;Hearing research;375;14-24; 30831381