IMPC phenotypes (allele matching)
C57BL/6N-Atm1Brd Espntm1a(EUCOMM)Wtsi/WtsiH
| Status | Available to order |
| EMMA ID | EM:06288 |
| Citation information | RRID:IMSR_EM:06288 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | C57BL/6N-Atm1Brd Espntm1a(EUCOMM)Wtsi/WtsiH |
| Alternative name | EPD0409_1_A08 |
| Strain type | Targeted Mutant Strains |
| Allele/Transgene symbol | Espntm1a(EUCOMM)Wtsi |
| Gene/Transgene symbol | Espn |
| 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 EPD0409_1_A08. 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 | None available |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
| Animals used for archiving | heterozygous C57BL/6NTac males |
| Breeding at archiving centre | Frozen samples received. No breeding at archiving centre. Due to the possible presence of C57BL/6N-Atm1Brd/a, may produce agouti pups. |
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
MGI phenotypes (gene matching)
- abnormal inner ear morphology / MGI
- abnormal inner ear vestibule morphology / MGI
- abnormal organ of Corti morphology / MGI
- organ of Corti degeneration / MGI
- abnormal stria vascularis morphology / MGI
- tremors / MGI
- abnormal nursing / MGI
- abnormal stationary movement / MGI
- abnormal locomotor behavior / MGI
- circling / MGI
- bidirectional circling / MGI
- abnormal gait / MGI
- decreased grooming behavior / MGI
- impaired swimming / MGI
- impaired balance / MGI
- abnormal reflex / MGI
- deafness / MGI
- abnormal cochlear hair cell morphology / MGI
- abnormal endocochlear potential / MGI
- head shaking / MGI
- decreased vertical activity / MGI
- abnormal cochlear ganglion morphology / MGI
- cochlear ganglion degeneration / MGI
- abnormal otolithic membrane morphology / MGI
- abnormal response to novelty / MGI
- abnormal tectorial membrane morphology / MGI
- detached tectorial membrane / MGI
- abnormal defecation / MGI
- abnormal ear physiology / MGI
- vestibular hair cell degeneration / MGI
- vestibular saccular macula degeneration / MGI
- abnormal utricular macula morphology / MGI
- cochlear hair cell degeneration / MGI
- cochlear inner hair cell degeneration / MGI
- cochlear outer hair cell degeneration / MGI
- abnormal crista ampullaris neuroepithelium morphology / MGI
- absent cochlear microphonics / MGI
- absent cochlear nerve compound action potential / MGI
- abnormal cochlear hair cell stereociliary bundle morphology / MGI
- decreased cochlear hair cell stereocilia number / MGI
- short cochlear hair cell stereocilia / MGI
- thin cochlear hair cell stereocilia / MGI
- abnormal inner hair cell stereociliary bundle morphology / MGI
- pillar cell degeneration / MGI
- abnormal vestibular system physiology / MGI
- absent linear vestibular evoked potential / MGI
- reduced linear vestibular evoked potential / MGI
- increased mean corpuscular hemoglobin / MGI
- increased hemoglobin content / MGI
- abnormal hearing electrophysiology / MGI
- absent pinna reflex / MGI
- retropulsion / MGI
- increased or absent threshold for auditory brainstem response / MGI