C57BL/6N-Phipem1(IMPC)Wtsi/WtsiCnbc
Status | Available to order |
EMMA ID | EM:13932 |
Citation information | RRID:IMSR_EM:13932 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-Phipem1(IMPC)Wtsi/WtsiCnbc |
Alternative name | |
Strain type | Endonuclease-mediated |
Allele/Transgene symbol | Phipem1(IMPC)Wtsi |
Gene/Transgene symbol | Phip |
Information from provider
Provider | Wellcome Trust Sanger Institute |
Provider affiliation | Wellcome Trust Sanger Institute |
Genetic information | This mouse line originates from CRISPR zygote microinjection. For further details see the project 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 males |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome / Orphanet_589905
IMPC phenotypes (allele matching)
IMPC phenotypes (gene matching)
- abnormal cranium morphology / IMPC
- hyperactivity / IMPC
- abnormal embryo size / IMPC
- increased circulating aspartate transaminase level / IMPC
- preweaning lethality, complete penetrance / IMPC
- small uterus / IMPC
- enlarged urinary bladder / IMPC
- increased leukocyte cell number / IMPC
- decreased body length / IMPC
- decreased circulating chloride level / IMPC
- hydrocephalus / IMPC
- developmental dysplasia / IMPC
- hydrocephaly / IMPC
MGI phenotypes (gene matching)
- hypoglycemia / MGI
- abnormal hepatocyte morphology / MGI
- decreased body size / MGI
- premature death / MGI
- increased insulin sensitivity / MGI
- small myocardial fiber / MGI
- abnormal cell physiology / MGI
- abnormal lung epithelium morphology / MGI
- decreased total body fat amount / MGI
- postnatal lethality, incomplete penetrance / MGI
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