Gbf1^em1Xzha
Endonuclease-mediated Allele Detail

Summary

• Symbol: Gbf1^em1Xzha
• Name: golgi-specific brefeldin A-resistance factor 1; endonuclease-mediated mutation 1, Xianqin Zhang
• MGI ID: MGI:8161094
• Synonyms: Gbf1^-
• Gene: Gbf1 Location: Chr19:46140948-46274949 bp, + strand Genetic Position: Chr19, 38.75 cM
• Alliance: Gbf1^em1Xzha page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 genome editing technology was used to generate a 1354-bp deletion comprising exon 6, exon 7, and their flanking intronic regions. The deletion causes a frame-shift and introduces a premature stop codon at the 143rd amino acid residue. Protein expression levels are significantly decreased in the lenses of heterozygous mutant mice. (J:359112)

Expression

In Structures Affected by this Mutation:

2 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 Gbf1 Mutation: 81 strains or lines available

References

• Original: J:359112 Jia W, et al., GBF1 deficiency causes cataracts in human and mouse. Hum Genet. 2024 Nov;143(11):1281-1291
• All: 1 reference(s)