Pank4^em1Nju
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pank4^em1Nju
• Name: pantothenate kinase 4; endonuclease-mediated mutation 1, Model Animal Research Center of Nanjing University
• MGI ID: MGI:6508538
• Gene: Pank4 Location: Chr4:155048580-155065395 bp, + strand Genetic Position: Chr4, 86.03 cM
• Alliance: Pank4^em1Nju page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 19 bp (ATCTCAGTCCAGGAGGAGA) deletion in exon 3 from position 237 to 256. Western blot analysis confirmed absence of protein in liver, kidney, cortex and lens. (J:301838)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Pank4 Mutation: 37 strains or lines available

References

• Original: J:301838 Sun M, et al., A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract. Hum Mutat. 2019 Apr;40(4):380-391
• All: 1 reference(s)