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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hap1tm1Xjl
targeted mutation 1, Xiao-Jiang Li
MGI:2670598
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hap1tm1Xjl/Hap1tm1Xjl involves: 129S6/SvEvTac * Black Swiss MGI:2670610
hm2
Hap1tm1Xjl/Hap1tm1Xjl involves: 129S6/SvEvTac * C57BL/6 MGI:5583024


Genotype
MGI:2670610
hm1
Allelic
Composition
Hap1tm1Xjl/Hap1tm1Xjl
Genetic
Background
involves: 129S6/SvEvTac * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hap1tm1Xjl mutation (1 available); any Hap1 mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no homozygotes survive beyond 15 days of age
• 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

growth/size/body
• homozygotes fail to gain weight after birth

behavior/neurological
N
• 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
J:84682




Genotype
MGI:5583024
hm2
Allelic
Composition
Hap1tm1Xjl/Hap1tm1Xjl
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hap1tm1Xjl mutation (1 available); any Hap1 mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• the number of Ca2+-dependent and Ca2+-independent full vesicle-membrane fusion events in mutant chromaffin cells is significantly decreased compared with those in control cells
• early fusion pore duration is prolonged
• reduced number of vesicles docked at the plasma membrane in mutant chromaffin cells, where membrane capacitance measurements show that the readily releasable pool of vesicles is reduced in size





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory