Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Tumor data | Find Mice (IMSR) | References

Symbol:	Fancctm1Mab
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:	Fancctm1Mab page

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+

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

8 anatomical structure(s)

List all tumor models in MMHCdb carrying Fancctm1Mab

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

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)