Mouse Genome Informatics
involves: 129S6/SvEvTac * Black Swiss
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
• most homozygotes die at 3 to 4 days after birth
• a few survive beyond 9 days of age, in the absence of skin, bone, or organ abnormalities
• no homozygotes survive beyond 15 days of age

• homozygotes fail to gain weight after birth

• homozygotes that survive beyond 9 days of age do not exhibit defects in movement, tactile response, or motor control (J:84682)
• mutant pups contain very little gastric milk, suggesting a feeding defect that may retard postnatal growth

nervous system
• at P1, TUNEL-positive cells are observed in the paraventricular nuclei (PVN) and the lateral hypothalamus (LH) of mutant but not wild-type mice; very few or no TUNEL-positive cells are noted in the arcuate nucleus (ARC) of mutant mice
• by P3, TUNEL-labeled cells are more widely spread in various regions of the hypothalamus which control eating, food intake, and energy metabolism, including the ventromedial hypothalamic nucleus (VMN)
• as early as P1, homozygotes display degeneration in specific regions of the hypothalamus that control feeding behavior, as determined by TUNEL staining
• in contrast, other brain regions (e.g. cortex, striatum, cerebellum, and hippocampus) display significantly fewer TUNEL-positive cells or show no difference relative to wild-type mice

Mouse Models of Human Disease
NOT Huntington Disease; HD 143100 J:84682