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Phenotypes Associated with This Genotype
involves: 129S6/SvEvTac * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hap1tm1Xjl mutation (1 available); any Hap1 mutation (24 available)
phenotype observed in females
phenotype observed in males
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
• 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
DO ID OMIM ID(s) Ref(s)
NOT Huntington's disease DOID:12858 OMIM:143100

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.11
The Jackson Laboratory