Exons 5 to 10 were flanked by loxP sites. An FRT-flanked puromycin selection cassette was inserted downstream of exon 10 before the second loxP site. Flp-mediated recombination removed the selection cassette. Exons 5-10 were deleted via cre-mediated recombination in the germline. Deleting these exons deletes the cystathionine beta-synthase (CBS) 2 domain and parts of the CBS1 and 3 domains and is predicted to generate a frame shift from exon 4 to exon 11 and premature stop codon in exon 12. (J:317473)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count