- increased leukocyte cell number / IMPC
- persistence of hyaloid vascular system / IMPC
- abnormal lens morphology / IMPC
- cataract / IMPC
- abnormal retina morphology / IMPC
- decreased exploration in new environment / IMPC
- increased startle reflex / IMPC
- increased circulating HDL cholesterol level / IMPC
- abnormal vitreous body morphology / IMPC
- abnormal retina vasculature morphology / IMPC
- increased circulating alkaline phosphatase level / IMPC
- decreased circulating iron level / IMPC
- increased circulating cholesterol level / IMPC
- increased circulating bilirubin level / IMPC
- decreased circulating serum albumin level / IMPC
- decreased blood urea nitrogen level / IMPC
- abnormal retina blood vessel morphology / IMPC
- increased circulating unsaturated transferrin level / IMPC
C57BL/6N-Cyp7a1tm1b(EUCOMM)Wtsi/Ieg
Status | Available to order |
EMMA ID | EM:10117 |
International strain name | C57BL/6N-Cyp7a1tm1b(EUCOMM)Wtsi/Ieg |
Alternative name | EPD0426_3_C04 |
Strain type | Targeted Mutant Strains |
Allele/Transgene symbol | Cyp7a1tm1b(EUCOMM)Wtsi |
Gene/Transgene symbol | Cyp7a1 |
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 | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH) |
Provider affiliation | Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH) |
Genetic information | This mouse line originates from EUCOMM ES clone EPD0426_3_C04. For further details on the construction of this clone see the page at the IMPC portal. The critical exon(s) were flanked by loxP sites, and subsequent cre expression excised this critical sequence resulting in a knockout reporter allele (Gt(ROSA)26Sor |
Phenotypic information | Potential phenotyping data in the IMPC portal |
References | None available |
Information from EMMA
Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
Animals used for archiving | heterozygous C57BL/6NTac |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency / Orphanet_209902
IMPC phenotypes (allele matching)
IMPC phenotypes (gene matching)
- increased circulating HDL cholesterol level / IMPC
- abnormal retina blood vessel morphology / IMPC
- increased startle reflex / IMPC
- abnormal retina vasculature morphology / IMPC
- decreased circulating serum albumin level / IMPC
- increased circulating alkaline phosphatase level / IMPC
- abnormal retina morphology / IMPC
- persistence of hyaloid vascular system / IMPC
- increased circulating bilirubin level / IMPC
- abnormal lens morphology / IMPC
- decreased circulating iron level / IMPC
- abnormal vitreous body morphology / IMPC
- decreased blood urea nitrogen level / IMPC
- cataract / IMPC
- increased leukocyte cell number / IMPC
- decreased exploration in new environment / IMPC
- increased circulating cholesterol level / IMPC
- increased circulating unsaturated transferrin level / IMPC
MGI phenotypes (gene matching)
- abnormal liver morphology / MGI
- abnormal liver physiology / MGI
- abnormal skin condition / MGI
- flaky skin / MGI
- oily skin / MGI
- abnormal epidermis stratum basale morphology / MGI
- thin epidermis stratum spinosum / MGI
- abnormal epidermis stratum granulosum morphology / MGI
- hyperkeratosis / MGI
- thin dermal layer / MGI
- delayed eyelid opening / MGI
- hypoactivity / MGI
- decreased exploration in new environment / MGI
- postnatal growth retardation / MGI
- abnormal skin morphology / MGI
- abnormal vision / MGI
- abnormal lipid homeostasis / MGI
- decreased intestinal cholesterol absorption / MGI
- steatorrhea / MGI
- greasy coat / MGI
- dry skin / MGI
- abnormal bile composition / MGI
- abnormal bile salt level / MGI
- abnormal bile salt homeostasis / MGI
- abnormal fat-soluble vitamin level / MGI
- decreased birth weight / MGI
- postnatal lethality, incomplete penetrance / MGI
- perinatal lethality, incomplete penetrance / MGI
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