Homozygous M390R mutant Bbs1 animals exhibit photoreceptor degeneration, severe obesity, hyperphagia and are hyperleptinemic with reduced locomotor activity. Lateral ventricles in the brain are enlarged, the corpus striatum is reduced and males lack sperm flagella.
Val Sheffield, University of Iowa, HHMI
Homozygous M390R mutant animals exhibit photoreceptor degeneration and severe obesity. By week 12, homozygous mutant mice are significantly heavier than wildtype or heterozygous mice. Animals are hyperphagic and hyperleptinemic with reduced locomotor activity but no elevation of mean arterial blood pressure. Lateral ventricles in the brain are enlarged and the corpus striatum is reduced. Males lack sperm flagella and are infertile. Although a model of Bardet-Biedl syndrome (BBS, these mice do not demonstrate polycactyly or renal cysts). Expression levels are comparable to those of wildtype mice as determined by Northern blot. Homozygotes are recovered at predicted Mendelian ratios from heterozygous crosses.
A methionine to arginine (ATG to AGG) mutation was introduced at codon 390 (exon 12) and an in-frame neomycin resistance cassette was placed in intron 12 of the targeted gene. The (129X1/SvJ x 129S1/Sv)F1- Kitl+-derived R1 embryonic stem (ES) cell line was used to create the mutation. This strain was backcrossed seven times to 129/SvEv by the donating laboratory.
|Allele Name||targeted mutation 1, Val C Sheffield|
|Gene Symbol and Name||Bbs1, Bardet-Biedl syndrome 1 (human)|
|Promoter||Bbs1, Bardet-Biedl syndrome 1 (human), mouse, laboratory|
|Strain of Origin||(129X1/SvJ x 129S1/Sv)F1-Kitl+|
|Molecular Note||The methionine codon (ATG) at position 390 in exon 12 was replaced with an arginine codon (AGG) and a neo cassette was inserted into intron 12 via homologous recombination. Northern blot analysis indicated that mRNA expression is not reduced in homozygous brains.|
|Mutations Made By|| |
Val Sheffield, University of Iowa, HHMI
When maintained as a live colony, heterozygotes may be bred. Homozygous males are infertile due to lack of sperm flagella.
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