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. 

Homozygous M390R mutant <i>Bbs1</i> (Bardet-Biedl syndrome 1 (human)) animals exhibit photoreceptor degeneration and severe obesity.  Mice 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.

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