Shh^tm1.1Rseg
Targeted Allele Detail

Summary

• Symbol: Shh^tm1.1Rseg
• Name: sonic hedgehog; targeted mutation 1.1, Rosalind A Segal
• MGI ID: MGI:3851472
• Synonyms: Shh^Ala
• Gene: Shh Location: Chr5:28661838-28672099 bp, - strand Genetic Position: Chr5, 14.39 cM
• Alliance: Shh^tm1.1Rseg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:150524
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Mutations (arginine codon 34 (AGG) to alanine (GCG) (p.R34A) and lysine codon 38 (AAA) to alanine (GCA) (p.K38A)) were introduced into the N-terminal Cardin-Weintraub motif encode by exon 1 to reduce high-affinity Shh-proteoglycan interaction without altering Shh's affinity for its receptor. For targeting purposes, a floxed neomycin cassette was introduced into intron 1 and subsequently removed by transient expression of cre recombinase. Expression levels of the mutant protein in homozygotes was identical to wild-type as determined by immunoblot analysis of cerebellar extracts. (J:150524)

Expression

In Structures Affected by this Mutation:

8 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 Shh Mutation: 48 strains or lines available

References

• Original: J:150524 Chan JA, et al., Proteoglycan interactions with Sonic Hedgehog specify mitogenic responses. Nat Neurosci. 2009 Apr;12(4):409-17
• All: 2 reference(s)