C57BL/6N-Atm1Brd Espntm1a(EUCOMM)Wtsi/WtsiH
Status | Available to order |
EMMA ID | EM:06288 |
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 |
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
IMPC phenotypes (allele matching)
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
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