Mouse Genome Informatics
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
• the proportion of homozygotes is decreased to 19.1% and data suggest death late in gestation

• at 2-3 months of age a slight reduction in the outer nuclear layer and some cell nuclei in the subretinal space were seen
• at 8 months of age the outer nuclear layer is completely degenerated and no remnants of the inner or outer segments are seen

• at weaning homozygotes weigh significantly less than wild-type or heterozygous littermates
• by 28 weeks of age homozygotes weigh significantly more than wild-type or heterozygous littermates and the weight difference is greater in females than in males

cardiovascular system
• diastolic, systolic, and mean blood pressure are increased with mean arterial pressure increased on average by 12 mmHg

• homozygotes are more docile during handling and in 72% and 76% of trials were submissive to wild-type and heterozygous mice, respectively
• 24 hour telemetry indicates a significant decrease in activity; however, no significant differences in muscle or motor neuron function dependent behaviors are seen
• females are less vocal during handling


• no polydactyly or other notable limb malformations are seen (J:99276)

reproductive system
• spermatozoa lack flagella but have normally formed heads and cilia on epithelial cells form normally (J:99276)

• decreased olfactory ability suggested by a decreased ability to find hidden food

Mouse Models of Human Disease
Bardet-Biedl Syndrome; BBS 209900 J:99276
NOT McKusick-Kaufman Syndrome; MKKS 236700 J:99276
Obesity 601665 J:99276