C57BL/6N-S1pr2stdf/WtsiOulu
Status | Available to order |
EMMA ID | EM:10854 |
International strain name | C57BL/6N-S1pr2stdf/WtsiOulu |
Alternative name | C57BL/6N Stonedeaf mutation |
Strain type | Spontaneous |
Allele/Transgene symbol | stdf, |
Gene/Transgene symbol | S1pr2 |
Information from provider
Provider | Karen Steel |
Provider affiliation | Centre for Age-Related Diseases, King |
Additional owner | Wellcome Trust Sanger Institute |
Genetic information | This mutation is a G>C transition in the S1pr2 gene, resulting in a threonine to arginine change (T289R). |
Phenotypic information | Homozygous:These mutants show an early-onset, rapidly-progressive hearing loss, with Auditory Brainstem Response thresholds increasing from two weeks onwards. No other features were detected.Heterozygous:No detected phenotype in heterozygotes. |
Breeding history | The mutation arose spontaneously during targeting of a separate gene (Mms22l). The frozen embryos carrying the stonedeaf mutation do not carry the targeted Mms22l mutation as this was bred out of the line prior to producing embryos for freezing. |
References |
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Homozygous fertile | yes |
Homozygous viable | yes |
Homozygous matings required | no |
Immunocompromised | no |
Information from EMMA
Archiving centre | University of Oulu, Oulu, Finland |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
Literature references
- Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme.;Lewis Morag A, Ingham Neil J, Chen Jing, Pearson Selina, Di Domenico Francesca, Rekhi Sohinder, Allen Rochelle, Drake Matthew, Willaert Annelore, Rook Victoria, Pass Johanna, Keane Thomas, Adams David J, Tucker Abigail S, White Jacqueline K, Steel Karen P, ;2022;BMC biology;20;67; 35296311
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