Bnc1^tm1.1Nju
Targeted Allele Detail

Summary

• Symbol: Bnc1^tm1.1Nju
• Name: basonuclin zinc finger protein 1; targeted mutation 1.1, Model Animal Research Center of Nanjing University
• MGI ID: MGI:8190270
• Synonyms: Bnc1^tr
• Gene: Bnc1 Location: Chr7:81616401-81642047 bp, - strand Genetic Position: Chr7, 45.71 cM
• Alliance: Bnc1^tm1.1Nju page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:266539
• Parent Cell Line: B6/BLU (ES Cell)
• Strain of Origin: C57BL/6NTac-Tg(HBB-lacZ)ALey/Ley

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A 5 bp (c.1153_1157del CCGGG) deletion was introduced in exon 4 along with a loxP-flanked neomycin selection cassette upstream of the mutant exon 4. The deletion results in a frameshift downstream of the mutant site and a premature stop codon generating a truncation mutation and corresponds to a variant identified in patients with primary ovarian insufficiency. (J:266539)

Disease models

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	8 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 Bnc1 Mutation: 29 strains or lines available

References

• Original: J:266539 Zhang D, et al., Basonuclin 1 deficiency is a cause of primary ovarian insufficiency. Hum Mol Genet. 2018 Nov 1;27(21):3787-3800
• All: 3 reference(s)