B6Brd;B6N-Tyrc-Brd Mcph1tm1a(EUCOMM)Wtsi/WtsiCnbc
Status | Available to order |
EMMA ID | EM:04808 |
International strain name | B6Brd;B6N-Tyrc-Brd Mcph1tm1a(EUCOMM)Wtsi/WtsiCnbc |
Alternative name | EPD0080_2_A02 |
Strain type | Targeted Mutant Strains |
Allele/Transgene symbol | Mcph1tm1a(EUCOMM)Wtsi, |
Gene/Transgene symbol | Mcph1 |
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 EPD0080_2_A02. 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 |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Autosomal recessive primary microcephaly / Orphanet_2512
IMPC phenotypes (allele matching)
MGI phenotypes (allele matching)
- microcephaly / MGI
- small gonad / MGI
- microphthalmia / MGI
- abnormal lens morphology / MGI
- cataract / MGI
- abnormal cornea morphology / MGI
- corneal opacity / MGI
- disorganized retinal layers / MGI
- abnormal reproductive system morphology / MGI
- abnormal fertility/fecundity / MGI
- abnormal auditory brainstem response / MGI
- increased B cell number / MGI
- abnormal eye anterior chamber morphology / MGI
- abnormal corneal stroma morphology / MGI
- corneal vascularization / MGI
- absent pinna reflex / MGI
- chromosomal instability / MGI
- decreased bone mineral content / MGI
- decreased bone trabecula number / MGI
- decreased trabecular bone mass / MGI
- decreased trabecular bone volume / MGI
- increased cornea thickness / MGI
- persistent hyaloid artery / MGI
- decreased bone mineral density / MGI
- decreased body weight / MGI
- abnormal eye pigmentation / MGI
- increased thermal nociceptive threshold / MGI
- decreased lean body mass / MGI
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