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Allele : Ghsr<tm1.1Jmz> growth hormone secretagogue receptor; targeted mutation 1.1, Jeffrey M Zigman

Primary Identifier  MGI:7579167 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Ghsr
Transmission  Germline Strain of Origin  Not Specified
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • GHSR-A203E,
  • GHSR-A203E
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

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0 Driven By

3 Publication categories

Trail: Allele