Snap29^{tm1b(EUCOMM)Wtsi}
Targeted Allele Detail

Summary

• Symbol: Snap29^{tm1b(EUCOMM)Wtsi}
• Name: synaptosomal-associated protein 29; targeted mutation 1b, Wellcome Trust Sanger Institute
• MGI ID: MGI:5812298
• Synonyms: Snap29^-
• Gene: Snap29 Location: Chr16:17223864-17248690 bp, + strand Genetic Position: Chr16, 10.79 cM
• Alliance: Snap29^{tm1b(EUCOMM)Wtsi} page
• IMPC: Snap29 gene page

Mutation origin

• Mutant Cell Line: EPD0065_4_B10
• Germline Transmission: Earliest citation of germline transmission: J:236759
• Parent Cell Line: JM8.F6 (ES Cell)
• Strain of Origin: C57BL/6N
• Project Collection: EUCOMM

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion Vector: L1L2_gt0
• Mutation details: Cre-mediated excision of the parental Snap29^{tm1a(EUCOMM)Wtsi} allele resulted in the removal of the critical exon 2 leaving behind the inserted lacZ/neo cassette. Removal of exon 2 introduces a frameshift with early termination at the eighth codon in Exon 3. Further information on targeting strategies used for this and other IKMC alleles can be found at http://www.informatics.jax.org/mgihome/nomen/IKMC_schematics.shtml. (J:236759)

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Snap29 Mutation: 30 strains or lines available

References

• Original: J:236759 Schiller SA, et al., Establishment of Two Mouse Models for CEDNIK Syndrome Reveals the Pivotal Role of SNAP29 in Epidermal Differentiation. J Invest Dermatol. 2016 Mar;136(3):672-9
• All: 1 reference(s)