C57BL/6N-Atm1Brd Espnspdz Slc35f2tm1a(EUCOMM)Wtsi/WtsiH[cc]
| Status | Available to order |
| EMMA ID | EM:13796 |
| International strain name | C57BL/6N-Atm1Brd Espnspdz Slc35f2tm1a(EUCOMM)Wtsi/WtsiH[cc] |
| Alternative name | Spindizzy, Espn-spdz |
| Strain type | Spontaneous |
| Allele/Transgene symbol | Espnspdz, |
| Gene/Transgene symbol | Espn |
Information from provider
| Provider | Karen Steel |
| Provider affiliation | King |
| Genetic information | We were unable to amplify a 431bp region in the intron between exons 15 and 16, between g.4:152122586 and g.4:152123017, suggesting that there may be an insertion or other genomic disruption at this location of the chromosome. |
| Phenotypic information | Homozygous:Mice homozygous for this mutation displayed circling and head bobbing and had no response to sound up to 95dB SPL, associated with stereocilia defects of the inner ear hair cells.Heterozygous:No obvious defect. |
| Breeding history | The spindizzy mutation arose in a colony carrying the Slc35f2tm1a(EUCOMM)Wtsi targeted mutation, and this allele may still be in the background. The spindizzy mutation was maintained within a closed colony on a C57BL/6N-Atm1Brd background over several years. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
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 1 / Orphanet_231169
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