Tyrosine 1138 of exon 18b was replaced with a serine residue (Y1138S) and a neomycin resistance cassette was inserted into the downstream intron via homologous recombination. The Y1138S amino acid substitution specifically disrupts the leptin receptor long form (LRb)-STAT3 signal. Expression of the knock-in allele in mutant animals was confirmed by semi-quantitative RT-PCR analysis of hypothalamus RNA. (J:82334)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count