C57BL/6N-Atm1Brd Pnpla1tm1a(KOMP)Wtsi/Ics
Status | Available to order |
EMMA ID | EM:08012 |
International strain name | C57BL/6N-Atm1Brd Pnpla1tm1a(KOMP)Wtsi/Ics |
Alternative name | EPD0824_4_F04 |
Strain type | Targeted Mutant Strains |
Allele/Transgene symbol | Pnpla1tm1a(KOMP)Wtsi |
Gene/Transgene symbol | Pnpla1 |
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 | ICS, Institut Clinique de la Souris |
Provider affiliation | ICS, Institut Clinique de la Souris |
Genetic information | This mouse line originates from KOMP ES clone EPD0824_4_F04. For further details on the construction of this clone see the page at the IMPC portal. |
Phenotypic information | Potential phenotyping data in the IMPC portal |
References | None available |
Information from EMMA
Archiving centre | ICS, Institut Clinique de la Souris, Illkirch-Graffenstaden, France |
Animals used for archiving | heterozygous C57BL/6NCrl |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Congenital non-bullous ichthyosiform erythroderma / Orphanet_79394
IMPC phenotypes (gene matching)
MGI phenotypes (gene matching)
- reddish skin / MGI
- shiny skin / MGI
- tight skin / MGI
- wrinkled skin / MGI
- abnormal epidermal layer morphology / MGI
- epidermal hyperplasia / MGI
- abnormal epidermis stratum corneum morphology / MGI
- hyperkeratosis / MGI
- hypoactivity / MGI
- decreased embryo size / MGI
- acanthosis / MGI
- abnormal skin morphology / MGI
- impaired skin barrier function / MGI
- dry skin / MGI
- abnormal skin development / MGI
- increased cholesterol level / MGI
- increased triglyceride level / MGI
- decreased embryo weight / MGI
- absent gastric milk in neonates / MGI
- impaired stratum corneum desquamation / MGI
- abnormal keratohyalin granule morphology / MGI
- decreased keratohyalin granule number / MGI
- abnormal epidermal lamellar body morphology / MGI
- abnormal free fatty acids level / MGI
- neonatal lethality, complete penetrance / MGI
- abnormal ceramide level / MGI
- abnormal tail tip morphology / MGI
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