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Senp2tm1Eyeh
Targeted Allele Detail
Summary
Symbol: Senp2tm1Eyeh
Name: SUMO/sentrin specific peptidase 2; targeted mutation 1, Edward TH Yeh
MGI ID: MGI:5706831
Synonyms: SENP2fxN
Gene: Senp2  Location: Chr16:21828234-21868019 bp, + strand  Genetic Position: Chr16, 12.98 cM, cytoband B1
Alliance: Senp2tm1Eyeh page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:217910
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Conditional ready, Hypomorph)
Mutation:    Insertion
 
Mutation detailsA loxP site was inserted upstream of exon 13 and an FRT flanked neo cassette and loxP site were inserted downstream of exon 14 via homologous recombination. Real-time PCR and western blot analysis indicates a significant reduction in expression in the brain and heart of homozygous mice. (J:217910)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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: 0 strains available      Cell Lines: 0 lines available
Carrying any Senp2 Mutation:  51 strains or lines available
Notes

Phenotypic Similarity to Human Syndrome: Sudden unexplained death in epilepsy J:217910.

References
Original:  J:217910 Qi Y, et al., Hyper-SUMOylation of the Kv7 potassium channel diminishes the M-current leading to seizures and sudden death. Neuron. 2014 Sep 3;83(5):1159-71
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory