Cnot1^em1Ibrs
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cnot1^em1Ibrs
• Name: CCR4-NOT transcription complex, subunit 1; endonuclease-mediated mutation 1, Ines Barroso
• MGI ID: MGI:6388415
• Synonyms: Cnot1^{p.(Arg535Cys)}
• Gene: Cnot1 Location: Chr8:96446079-96534092 bp, - strand Genetic Position: Chr8, 47.18 cM
• Alliance: Cnot1^em1Ibrs page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR-Cas targeting introduced nuceotide substitutions to generate the amino acid substitution of cysteine for arginine at position 535. (J:280232)

Expression

In Mice Carrying this Mutation:

16 assay results

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 Cnot1 Mutation: 161 strains or lines available

References

• Original: J:280232 De Franco E, et al., A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development. Am J Hum Genet. 2019 May 2;104(5):985-989
• All: 1 reference(s)