A CGC to CAC codon substitution was made in exon 4, changing residue arginine 191 to histamine, loxP sites were inserted flanking exons 3 and 7, and a FRT-flanked neomycin resistance cassette was inserted between exons 2 and 3. The neomycin resistance cassette was removed via flp-mediated recombination. The R191H mutation is homologous to the human R195H mutation that causes an infantile-onset, rapidly progressing form of vanishing white matter. (J:278928)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count