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Shhtm3Amc
Targeted Allele Detail
Summary
Symbol: Shhtm3Amc
Name: sonic hedgehog; targeted mutation 3, Andrew P McMahon
MGI ID: MGI:2387802
Synonyms: N-Shh, Shhn
Gene: Shh  Location: Chr5:28661838-28672099 bp, - strand  Genetic Position: Chr5, 14.39 cM
Alliance: Shhtm3Amc page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:69771
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Single point mutation
 
Mutation detailsA construct containing a nonsense mutation at cysteine codon 199 was inserted at the endogenous locus via homologous recombination. Termination of translation after glycine 198 putatively precludes autoproteolytic activity and the associated process in which a cholesterol, involved in cell surface tethering, is attached to glycine 198. (J:69771)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 5 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 Shh Mutation:  45 strains or lines available
References
Original:  J:69771 Lewis PM, et al., Cholesterol modification of sonic hedgehog is required for long-range signaling activity and effective modulation of signaling by Ptc1. Cell. 2001 Jun 1;105(5):599-612
All:  2 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
04/23/2024
MGI 6.23
The Jackson Laboratory