C57BL/6J-Proser1em1Doca/H

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EMMA IDEM:15854
Citation informationRRID:IMSR_EM:15854 

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International strain nameC57BL/6J-Proser1em1Doca/H
Alternative nameProser1 KO
Strain typeEndonuclease-mediated
Allele/Transgene symbolProser1em1Doca
Gene/Transgene symbolProser1

Information from provider

ProviderKasper Rasmussen
Provider affiliationDivision of Molecular, Cellular, and Developmental Biology (MCDB), University of Dundee
Genetic informationThe Proser1 knockout allele was generated by injecting fertilised 1-cell zygotes from C57BL/6J mice with Cas9 mRNA and and a small guide RNA (5’- GTGCTGGATGAAATTCGAA-3’) targeting exon 1 of Proser1 (ENSMUSG00000049504). Injected zygotes were cultured to blastocyst stage and implanted into pseudo-pregnant females. Genomic DNA harvested from offspring was screened for the presence of out-of-frame indels. Founder animals harboring an allele with a disruptive 7 bp deletion starting at position 53,371,732 of chromosome 3 (Build GRCm39) were selected for backcrossing to C57BL/6J animals and further breeding.
Phenotypic informationHomozygous:
Homozygous mice display prenatal lethality with approximately 50% of KO offspring surviving to adulthood. Adult mice weigh less than their wildtype counterparts, and have reduced cranial volume. A proportion of adult KO animals display a syndromic phenotype characterised by frequent eye abnormalities, including microphthalmia, anopthalmia, and cataracts, as well as intermittent tremors and failure to thrive.

Heterozygous:
No obvious phenotype
Breeding historyAnimals carrying the Proser1 knockout allele has been backcrossed to C57BL/6J (Charles River strain code 632) for 7 generations.
References
  • PROSER1 modulates DNA demethylation through dual mechanisms to prevent syndromic developmental malformations.;Fleming Anna, Knatko Elena V, Li Xiang, Zoch Ansgar, Heckhausen Zoe, Stransky Stephanie, Brenes Alejandro J, Sidoli Simone, Hajkova Petra, O'Carroll Dónal, Rasmussen Kasper D, ;2024;Genes & development;38;952-964; 39562138
  • PROSER1 modulates DNA demethylation through dual mechanisms to prevent syndromic developmental malformations.;Fleming Anna, Knatko Elena V, Li Xiang, Zoch Ansgar, Heckhausen Zoe, Stransky Stephanie, Brenes Alejandro J, Sidoli Simone, Hajkova Petra, O'Carroll Dónal, Rasmussen Kasper D, ;2024;Genes & development;38;952-964; 39562138
Homozygous fertilenot known
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreMary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Literature references

  • PROSER1 modulates DNA demethylation through dual mechanisms to prevent syndromic developmental malformations.;Fleming Anna, Knatko Elena V, Li Xiang, Zoch Ansgar, Heckhausen Zoe, Stransky Stephanie, Brenes Alejandro J, Sidoli Simone, Hajkova Petra, O'Carroll Dónal, Rasmussen Kasper D, ;2024;Genes & development;38;952-964; 39562138

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