Phenotypes Associated with This Genotype

Genotype
MGI:2670610

• Allelic Composition: Hap1^tm1Xjl/Hap1^tm1Xjl
• Genetic Background: involves: 129S6/SvEvTac * Black Swiss

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

postnatal lethality, complete penetrance ( J:84682 )

• 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

growth/size/body

slow postnatal weight gain ( J:84682 )

• homozygotes fail to gain weight after birth

behavior/neurological

behavior/neurological phenotype ( J:84682 )

N • homozygotes that survive beyond 9 days of age do not exhibit defects in movement, tactile response, or motor control

absent gastric milk in neonates ( J:84682 )

• mutant pups contain very little gastric milk, suggesting a feeding defect that may retard postnatal growth

nervous system

abnormal hypothalamus morphology ( J:84682 )

• 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)

abnormal paraventricular hypothalamic nucleus morphology ( J:84682 )

abnormal ventromedial hypothalamic nucleus morphology ( J:84682 )

neurodegeneration ( J:84682 )

• 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	J:84682