The C57BL/6 bacterial artificial chromosome (BAC) clone RP23-356I16 containing genomic DNA from exons 2-4 of the Egln1 gene was modified to insert a P249R nucleotide substitution in exon 2 using a minitargeting vector. The final targeting vector contained a 6.9 kb 5' arm containing exon 2 with the P249R nucleotide substitution, a loxP-flanked neomycin selection cassette and a 4.1 kb 3' arm. The presence of the P249R mutation was confirmed by sequencing. The neomycin resistance cassette was removed by cre-mediated recombination using mice carrying the Gt(ROSA)26Sortm16(cre)Arte allele. (J:202737)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count