- preweaning lethality, complete penetrance / IMPC
C57BL/6N-Atm1Brd Prps1tm1a(EUCOMM)Wtsi/IcsOrl
Status | Available to order |
EMMA ID | EM:10180 |
International strain name | C57BL/6N-Atm1Brd Prps1tm1a(EUCOMM)Wtsi/IcsOrl |
Alternative name | EPD0436_5_D08 |
Strain type | Targeted Mutant Strains |
Allele/Transgene symbol | Prps1tm1a(EUCOMM)Wtsi |
Gene/Transgene symbol | Prps1 |
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 EUCOMM ES clone EPD0436_5_D08. 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 | Institut de Transgenose, INTRAGENE, Orléans, France |
Animals used for archiving | heterozygous C57BL/6N |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome / Orphanet_423479
- Lethal ataxia with deafness and optic atrophy / Orphanet_1187
- Severe phosphoribosylpyrophosphate synthetase superactivity / Orphanet_411543
- X-linked non-syndromic sensorineural deafness type DFN / Orphanet_90625
- X-linked Charcot-Marie-Tooth disease type 5 / Orphanet_99014
- Mild phosphoribosylpyrophosphate synthetase superactivity / Orphanet_411536
IMPC phenotypes (gene matching)
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