Zfp423^em3Haml
Endonuclease-mediated Allele Detail

Summary

• Symbol: Zfp423^em3Haml
• Name: zinc finger protein 423; endonuclease-mediated mutation 3, Bruce Hamilton
• MGI ID: MGI:6781786
• Synonyms: Zfp423^E1124K, Zfp423-E1124K
• Gene: Zfp423 Location: Chr8:88388438-88686223 bp, - strand Genetic Position: Chr8, 42.29 cM, cytoband C4
• Alliance: Zfp423^em3Haml page

Mutation origin

• Strain of Origin: FVB/NJ

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 glutamic acid with lysine at position 1132 (E1132K), which is equivalent to E1124 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: 1 strain available Cell Lines: 0 lines available
• Carrying any Zfp423 Mutation: 274 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)