Del(7Slx1b-Sept1)4Aam
Targeted Allele Detail

Summary

• Symbol: Del(7Slx1b-Sept1)4Aam
• Name: deletion, Chr 7, Alea A Mills 4
• MGI ID: MGI:4462822
• Synonyms: 16p11.2 df, Del4Aam, Del(7)4Aam
• Gene: Del(7Slx1b-Sept1)4Aam Location: Chr7:126288640-126832159 bp Genetic Position: Chr7, Syntenic

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:176335
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intergenic deletion, Intragenic deletion
• Del(7Slx1b-Sept1)4Aam involves 50 genes/genome features (Gm19288, Gm25333, Gm15676 ...) View all
• Mutation details: Chromosome-engineering cassettes were inserted into mouse Chromosome 7, bracketing a span of approximately 0.39 Mb between the SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (Smg1) and the aldolase A, fructose-bisphosphate (Aldoa) loci. The cassette placed at the proximal locus contained Smg1, a puromycin resistance gene, a loxP site, a 3' portion of an hprt minigene and an agouti transgene. The cassette placed at the distal locus contained the Aldoa gene, a tyrosinase minigene, a 5' portion of an hprt minigene, a loxP site and neomycin resistance gene. Double-targeted ES cells were subjected to transient cre recombinase expression with subsequent selection of recombinants by using hypoxanthine aminopterin thymidine (HAT) media to delete the targeted region. (J:176335)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Del(7Slx1b-Sept1)4Aam Mutation: 1 strain or line available

References

• Original: J:176335 Horev G, et al., Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism. Proc Natl Acad Sci U S A. 2011 Oct 11;108(41):17076-81
• All: 26 reference(s)