Ghsr^tm1.1Jmz

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)