Shank3tm1Cmpl
Targeted Allele Detail
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Symbol: |
Shank3tm1Cmpl |
Name: |
SH3 and multiple ankyrin repeat domains 3; targeted mutation 1, Craig M Powell |
MGI ID: |
MGI:5788281 |
Synonyms: |
Shank3G |
Gene: |
Shank3 Location: Chr15:89383826-89444464 bp, + strand Genetic Position: Chr15, 44.96 cM
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Alliance: |
Shank3tm1Cmpl page
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Germline Transmission: |
Earliest citation of germline transmission:
J:224381
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Parent Cell Line: |
SM1 (ES Cell)
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Strain of Origin: |
129S6/SvEvTac
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Allele Type: |
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Targeted (Modified isoform(s)) |
Mutation: |
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Insertion
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Mutation details: The targeting construct introduced upstream of exon 21 a lox P site, modified exon 21 containing an inserted G bp and a neomycin resistance and STOP cassette with a 3' loxP site. The resulting frameshift causes a premature STOP codon and loss of major higher molecular weight isoforms at the synapse. This insertion is present in patients with autism. Cre-mediated recombination is required to remove the modified exon and selection/STOP cassette.
(J:224381)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Shank3 Mutation: |
77 strains or lines available
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Original: |
J:224381 Speed HE, et al., Autism-Associated Insertion Mutation (InsG) of Shank3 Exon 21 Causes Impaired Synaptic Transmission and Behavioral Deficits. J Neurosci. 2015 Jul 1;35(26):9648-65 |
All: |
3 reference(s) |
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