C57BL/6NTac-Wbp2tm2a(EUCOMM)Wtsi/WtsiH
Status | Available to order |
EMMA ID | EM:05860 |
International strain name | C57BL/6NTac-Wbp2tm2a(EUCOMM)Wtsi/WtsiH |
Alternative name | EPD0037_2_D06 |
Strain type | Targeted Mutant Strains |
Allele/Transgene symbol | Wbp2tm2a(EUCOMM)Wtsi |
Gene/Transgene symbol | Wbp2 |
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 EPD0037_2_D06. 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
IMPC phenotypes (allele matching)
IMPC phenotypes (gene matching)
MGI phenotypes (allele matching)
- abnormal organ of Corti morphology / MGI
- abnormal distortion product otoacoustic emission / MGI
- sensorineural hearing loss / MGI
- abnormal cochlear IHC afferent innervation pattern / MGI
- abnormal cochlear OHC afferent innervation pattern / MGI
- hearing/vestibular/ear phenotype / MGI
- abnormal auditory summating potential / MGI
- decreased circulating amylase level / MGI
- abnormal auditory brainstem response waveform shape / MGI
- increased or absent threshold for auditory brainstem response / MGI
- hyperactivity / MGI
- abnormal behavior / MGI
- decreased circulating serum albumin level / MGI
- absent pinna reflex / MGI
- decreased circulating fructosamine level / MGI
MGI phenotypes (gene matching)
- abnormal organ of Corti morphology / MGI
- hyperactivity / MGI
- abnormal distortion product otoacoustic emission / MGI
- sensorineural hearing loss / MGI
- abnormal cochlear IHC afferent innervation pattern / MGI
- abnormal cochlear OHC afferent innervation pattern / MGI
- abnormal behavior / MGI
- hearing/vestibular/ear phenotype / MGI
- decreased circulating serum albumin level / MGI
- absent pinna reflex / MGI
- abnormal auditory summating potential / MGI
- decreased circulating amylase level / MGI
- decreased circulating fructosamine level / MGI
- abnormal auditory brainstem response waveform shape / 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
- Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing.;Buniello Annalisa, Ingham Neil J, Lewis Morag A, Huma Andreea C, Martinez-Vega Raquel, Varela-Nieto Isabel, Vizcay-Barrena Gema, Fleck Roland A, Houston Oliver, Bardhan Tanaya, Johnson Stuart L, White Jacqueline K, Yuan Huijun, Marcotti Walter, Steel Karen P, ;2016;EMBO molecular medicine;8;191-207; 26881968
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