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Smarcal1tm1.1Cfbo
Targeted Allele Detail
Nomenclature
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: Chr1:72583251-72633134 bp, + strand  Genetic Position: Chr1, 36.72 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:183899
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 6 anatomical structures
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 Smarcal1 Mutation:  34 strains or lines available
References
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:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/15/2018
MGI 6.12
The Jackson Laboratory