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

Symbol:	Smarcal1tm1.1Cfbo
Name:	SWI/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1; targeted mutation 1.1, Cornelius F Boerkoel
MGI ID:	MGI:5425295
Synonyms:	Smarcal1del
Gene:	Smarcal1  Location: Chr1:72622410-72672293 bp, + strand  Genetic Position: Chr1, 36.72 cM
Alliance:	Smarcal1tm1.1Cfbo page

Germline Transmission:	Earliest citation of germline transmission: J:183899
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A loxP site was inserted upstream of exon 2 and an FRT flanked neo cassette and loxP site were inserted downstream of exon 3 via homologous recombination. Cre mediated recombination removed exons 2 and 3 and the neo cassette. (J:183899)

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

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	6 anatomical structure(s)

List all tumor models in MMHCdb carrying Smarcal1tm1.1Cfbo

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 Smarcal1 Mutation:	47 strains or lines available

Original:	J:183899 Baradaran-Heravi A, et al., Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. Hum Mol Genet. 2012 Jun 1;21(11):2572-87
All:	3 reference(s)