C57BL/6N-Pex1tm1e(EUCOMM)Hmgu/Cnrm
Status | Available to order |
EMMA ID | EM:05837 |
International strain name | C57BL/6N-Pex1tm1e(EUCOMM)Hmgu/Cnrm |
Alternative name | HEPD0622_7_A07 |
Strain type | Targeted Mutant Strains : Targeted Non-conditional |
Allele/Transgene symbol | Pex1tm1e(EUCOMM)Hmgu |
Gene/Transgene symbol | Pex1 |
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 | CNR, Consiglio Nazionale delle Ricerche |
Provider affiliation | EMMA-Monterotondo Campus International Development, CNR, Consiglio Nazionale delle Ricerche |
Genetic information | This mouse line originates from EUCOMM ES clone HEPD0622_7_A07. For further details on the construction of this clone see the page at the IMPC portal. The targeted allele has lost the 3' loxP site. These mutations cannot be converted into conditional alleles. Click here for more information on EUCOMM final vectors. |
Phenotypic information | Potential phenotyping data in the IMPC portal |
References | None available |
Information from EMMA
Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Deafness-enamel hypoplasia-nail defects syndrome / Orphanet_3220
- Zellweger syndrome / Orphanet_912
- Neonatal adrenoleukodystrophy / Orphanet_44
- Infantile Refsum disease / Orphanet_772
IMPC phenotypes (gene matching)
MGI phenotypes (gene matching)
- cholestasis / MGI
- decreased body weight / MGI
- postnatal growth retardation / MGI
- premature death / MGI
- hepatic steatosis / MGI
- no phenotypic analysis / MGI
- bile duct proliferation / MGI
- abnormal rod electrophysiology / MGI
- abnormal cone electrophysiology / MGI
- increased fatty acid level / MGI
- decreased fatty acid level / MGI
- increased saturated fatty acid level / MGI
- abnormal intestinal lipid absorption / MGI
- abnormal bile salt homeostasis / MGI
- abnormal circulating phospholipid level / MGI
- retinal cone cell degeneration / MGI
- abnormal retinal rod cell outer segment morphology / MGI
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