About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:2670622
Allelic
Composition
Hap1tm1Hay/Hap1tm1Hay
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hap1tm1Hay mutation (0 available); any Hap1 mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• although homozygotes are born at the expected Mendelian frequency, >70% die within 2 days of birth primarily due to diminished feeding and malnutrition
• no homozygotes survive beyond 8 days of life

behavior/neurological
• by P2, homozygotes display an obvious decrease in feeding behavior, despite normal balance and motor coordination at P1-P6 and a normal suckling behavior at P1-P4
• feeding, weight gain and survival can not be improved by trimming the litter between P1-P2 to remove almost all of competing control littermates
• other physiological processes including sensitivity to tactile stimuli and mild pain remain normal
• by P2, homozygotes contain little to no milk in their stomachs

growth/size/body
• at P1, homozygotes are slightly smaller than wild-type and heterozygous littermates
• by P3, live homozygotes are dramatically smaller than control littermates
• at P1, >94% of homozygous mutant pups weigh less than 1.60 g, whereas 44% of wild-type and 48% of heterozygous controls weigh more than 1.60 g
• however, no gross anatomical abnormalities are noted in the heart, liver, lungs, adrenal gland or kidney
• by P3, homozygous mutant pups gain weight daily at a significantly lower rate than wild-type or heterozygous pups
• by P5, homozygous mutant pups weigh on average 30-40% less than control littermates

nervous system
• at P8, homozygous mutant brains are proportionately smaller than those of heterozygous controls
• at P8, homozygous mutant brains weigh 30% less than those of heterozygous controls
• at P8, mutant brains display notable inward depressions in both hemispheres of the cortical mantel, extending from the somatosensory cortex to the parietal associated cortex, auditory cortex and visual cortex
• a 1.75- and 1.4-fold increase in neuronal density is observed in cortical layer V and II, respectively, relative to controls; however, the thickness of cortical layer I, which contains axons from pyramidal neurons, is normal
• within cortical layer V, mutant cell bodies appear shrunken and show a 37% decrease in cross sectional area relative to controls
• at P8, homozygotes display a drastic atrophy of the brain cortical mantel as a result of postnatal malnutrition
• at P8, mutant brains show a 34.3% reduction in total cortical thickness from the white mater to pia

homeostasis/metabolism
• at P8, malnourished homozygotes exhibit a ~7-fold reduction of serum leptin levels to the background detection range (2-3 ng/ml)
• by P2, homozygotes appear unhealthy, dehydrated and malnourished

integument
• by P2, mutant skin is dry
• by P2, mutant skin forms loose folds around the body
• by P2, mutant skin is pale

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
NOT Huntington's disease DOID:12858 OMIM:143100
J:76174


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
12/10/2024
MGI 6.24
The Jackson Laboratory