Fancc^tm1Mab
Targeted Allele Detail

Summary

• Symbol: Fancc^tm1Mab
• Name: Fanconi anemia, complementation group C; targeted mutation 1, Manuel Buchwald
• MGI ID: MGI:1858040
• Synonyms: Fancc^-
• Gene: Fancc Location: Chr13:63452519-63645126 bp, - strand Genetic Position: Chr13, 32.8 cM
• Alliance: Fancc^tm1Mab page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:32080
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 8 and partial intronic flanking sequence was replaced by a neomycin cassette. RT-PCR analysis demonstrated that transcripts lacking exon 8 were produced from this allele as a result of splicing around the neo gene. However, this mutation event leads to frame shifted sequences downstream from exon 9. No protein product was detected in Western blots of liver extract from homozygous mice. (J:32080)

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Fancc^tm1Mab

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 Fancc Mutation: 68 strains or lines available

References

• Original: J:32080 Chen M, et al., Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia. Nat Genet. 1996 Apr;12(4):448-51
• All: 48 reference(s)