Zfp142^em2Obir
Endonuclease-mediated Allele Detail

Summary

• Symbol: Zfp142^em2Obir
• Name: zinc finger protein 142; endonuclease-mediated mutation 2, Ohad S Birk
• MGI ID: MGI:8314949
• Synonyms: zfp142^S1502*
• Gene: Zfp142 Location: Chr1:74605490-74627308 bp, - strand Genetic Position: Chr1, 38.54 cM
• Alliance: Zfp142^em2Obir page

Mutation origin

• Strain of Origin: C57BL/6JRcc

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Not Specified
• Mutation details: CRISPR/Cas9 technology generated a frameshift mutation slightly further downstream to the human pathogenic truncating mutation (in human, c.4002delG, p.L1335*62) in the mouse ortholog of ZNF142 that was identified in females of Bedouin ancestry presenting with autosomal recessive syndrome of early-onset intellectual disability with severe developmental delay and seizures. The frameshift mutation results in a stop codon at amino acid 1502 (p.S1502*) and truncation of the protein. (J:349801)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Zfp142 Mutation: 65 strains or lines available

References

• Original: J:349801 Proskorovski-Ohayon R, et al., ZNF142 mutation causes sex-dependent neurologic disorder. J Med Genet. 2024 May 21;61(6):566-577
• All: 1 reference(s)