Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Shhtm1.1Rseg
Name:	sonic hedgehog; targeted mutation 1.1, Rosalind A Segal
MGI ID:	MGI:3851472
Synonyms:	ShhAla
Gene:	Shh  Location: Chr5:28661838-28672099 bp, - strand  Genetic Position: Chr5, 14.39 cM
Alliance:	Shhtm1.1Rseg page

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

8 anatomical structure(s)

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:	45 strains or lines available

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)