C57BL/6N-Phipem1(IMPC)Wtsi/WtsiCnbc
Status | Available to order |
EMMA ID | EM:13932 |
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 |
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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