C57BL/6N-Atm1Brd Pnpla1tm1a(KOMP)Wtsi/Ics
Status | Available to order |
EMMA ID | EM:08012 |
Citation information | RRID:IMSR_EM:08012 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-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 males |
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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