- increased circulating calcium level / IMPC
- persistence of hyaloid vascular system / IMPC
- stereotypic behavior / IMPC
- trunk curl / IMPC
- impaired righting response / IMPC
- decreased lean body mass / IMPC
- increased blood urea nitrogen level / IMPC
- increased circulating sodium level / IMPC
- absent pinna reflex / IMPC
- increased NK T cell number / IMPC
- increased or absent threshold for auditory brainstem response / IMPC
C57BL/6N-Atm1Brd Myo7atm1a(EUCOMM)Wtsi/WtsiCnbc
Status | Available to order |
EMMA ID | EM:06098 |
International strain name | C57BL/6N-Atm1Brd Myo7atm1a(EUCOMM)Wtsi/WtsiCnbc |
Alternative name | EPD0381_2_B08 |
Strain type | Targeted Mutant Strains |
Allele/Transgene symbol | Myo7atm1a(EUCOMM)Wtsi, |
Gene/Transgene symbol | Myo7a |
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 EPD0381_2_B08. 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 | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
Animals used for archiving | heterozygous C57BL/6N, wild-type C57BL/6NCrl |
Stage of embryos | 2-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Usher syndrome type 1 / Orphanet_231169
- Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
- Usher syndrome type 2 / Orphanet_231178
- Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635
IMPC phenotypes (allele matching)
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