Shank3^tm1Yhj
Targeted Allele Detail

Summary

• Symbol: Shank3^tm1Yhj
• Name: SH3 and multiple ankyrin repeat domains 3; targeted mutation 1, Yong-hui Jiang
• MGI ID: MGI:5056336
• Synonyms: Shank3^e4-9, Shank3/J
• Gene: Shank3 Location: Chr15:89383826-89444464 bp, + strand Genetic Position: Chr15, 44.96 cM
• Alliance: Shank3^tm1Yhj page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:173402
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 4 through 9, which encode the ankyrin repeats, were replaced with a neo cassette. The absence of the 190 kDa but presence of of the 170 kDa and 140 kDa peptides was confirmed by western blot analysis on brian extracts. The a and b isoforms are deleted. (J:173402)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Shank3 Mutation: 85 strains or lines available

References

• Original: J:173402 Wang X, et al., Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. Hum Mol Genet. 2011 Aug 1;20(15):3093-108
• All: 8 reference(s)