Ghsr^tm1.1Jmz
Targeted Allele Detail

Summary

• Symbol: Ghsr^tm1.1Jmz
• Name: growth hormone secretagogue receptor; targeted mutation 1.1, Jeffrey M Zigman
• MGI ID: MGI:7579167
• Synonyms: GHSR-A203E
• Gene: Ghsr Location: Chr3:27425500-27432159 bp, + strand Genetic Position: Chr3, 10.86 cM
• Alliance: Ghsr^tm1.1Jmz page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:342712
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A a loxP site flanked transcriptional blocking cassette (TBC) was inserted into intron 1 (located in the 5' UTR) and alanine codon 203 (GCT) in exon 2 was changed to glutamic acid (GAA) (p.A203E). The TBC consists of the following elements: a splice acceptor, SV40 poly(A) signal sequence, SV40 enhancer, a neomycin resistance gene cassette, two HSV-TK poly(A) signal sequences, a synthetic poly(A) signal/transcriptional pause signal, and another synthetic poly(A) signal, followed by a Myc-associated zinc finger protein-binding site. The TBC was removed through subsequent Cre-mediated recombination. The mutation is the equivalent of the human p.A204E mutation, associated with short stature, that impairs constitutive GHSR activity. (J:342712)

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 Ghsr Mutation: 27 strains or lines available

References

• Original: J:342712 Torz LJ, et al., Metabolic insights from a GHSR-A203E mutant mouse model. Mol Metab. 2020 Sep;39:101004
• All: 1 reference(s)