- hemorrhage / IMPC
- abnormal facial morphology / IMPC
- no spontaneous movement / IMPC
- preweaning lethality, incomplete penetrance / IMPC
- abnormal head shape / IMPC
- decreased mean corpuscular hemoglobin concentration / IMPC
- decreased mean corpuscular hemoglobin / IMPC
- abnormal blood vessel morphology / IMPC
C57BL/6NTac-Cep290em1H/H
Status | Available to order |
EMMA ID | EM:12526 |
International strain name | C57BL/6NTac-Cep290em1H/H |
Alternative name | CEP290-R1891X-EM1-B6N |
Strain type | Endonuclease-mediated |
Allele/Transgene symbol | Cep290em1H |
Gene/Transgene symbol | Cep290 |
Information from provider
Provider | MRC-Harwell |
Provider affiliation | Mary Lyon Centre at MRC Harwell |
Genetic information | For detailed information on the genetic description of this strain, please have a look at this report. |
Phenotypic information | Homozygous:Not knownHeterozygous:None reported |
Breeding history | Co-isogenic on original background |
References | None available |
Homozygous fertile | males only |
Homozygous viable | not known |
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
- Leber congenital amaurosis / Orphanet_65
- Joubert syndrome with oculorenal defect / Orphanet_2318
- Bardet-Biedl syndrome / Orphanet_110
- Meckel syndrome / Orphanet_564
- Senior-Loken syndrome / Orphanet_3156
IMPC phenotypes (gene matching)
Information on how we integrate external resources can be found here
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