Zfp423^em11Haml
Endonuclease-mediated Allele Detail

Summary

• Symbol: Zfp423^em11Haml
• Name: zinc finger protein 423; endonuclease-mediated mutation 11, Bruce Hamilton
• MGI ID: MGI:6781914
• Synonyms: Zfp423^P913L-B6
• Gene: Zfp423 Location: Chr8:88388438-88686223 bp, - strand Genetic Position: Chr8, 42.29 cM, cytoband C4
• Alliance: Zfp423^em11Haml page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: CRISPR-targeting produced a point mutation that results in the amino acid substitution of proline with leucine at position 921 (P921L), which is equivalent to P913L in human patients with midline brain defects. (J:296537)

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 Zfp423 Mutation: 276 strains or lines available

References

• Original: J:296537 Deshpande O, et al., ZNF423 patient variants, truncations, and in-frame deletions in mice define an allele-dependent range of midline brain abnormalities. PLoS Genet. 2020 Sep;16(9):e1009017
• All: 1 reference(s)