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Phenotypes Associated with This Genotype
Genotype
MGI:3621007
Allelic
Composition
Zmpste24tm1Otin/Zmpste24tm1Otin
Genetic
Background
involves: 129P2/Ola * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Zmpste24tm1Otin mutation (0 available); any Zmpste24 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most nulls die by the age of 20 weeks

growth/size/body
• at 7 weeks of age, nulls have gained 40% less weight than littermates
• at 7 weeks of age, nulls are 30% smaller than wild-type or heterozygous littemates
• by 2 months of age, homozygotes begin to progressively lose weight
• by 4 to 6 weeks after birth, growth rate of homzygotes is reduced; by 7 weeks of age, mutants stop growing

behavior/neurological
• when lifted by their tails, mice reflexively overextend their hindlimbs and cannot bow upwards like wild-type mice
• mice exhibit tremors when lifted by their tails
• at 2 months of age, mice display a hunched posture
• nulls become less mobile, and slap and splay hindpaws while walking

cardiovascular system
• mutants dissected between 14 and 20 weeks of age exhibit greater heart weights compared to wild-type
• some mutants display dilation of the left ventricle
• some mutants display dilation of the right ventricle
• significant thinning of the ventricular wall is observed
• in mutants, fibrosis is seen along with infiltration of inflammatory cells

homeostasis/metabolism
• in end-stage mutant mice (approximately 20 weeks of age), a significant rise in serum levels of aspartate aminotransferase is seen
• in end-stage mutant mice (approximately 20 weeks of age), a significant rise in serum levels of creatine kinase is seen
• in end-stage mutant mice (approximately 20 weeks of age), a significant rise in serum levels of glutamate dehydrogenase is seen

muscle
• fibers of the paravertebral region, deltoid and quadriceps are dystrophic

renal/urinary system
• mutants have increased kidney weights compared to controls between 14 and 20 weeks of age

limbs/digits/tail
• in mutants there is growth plate dysplasia in the distal femur
• in mutants there is growth plate dysplasia in the proximal tibia

adipose tissue
• at 16 weeks of age, mutants have lost the subcutaneous fat layer

immune system
• young mice display loss of corticomedullary demarcation
• young mice display thymic hypoplasia with loss of corticomedullary demarcation

skeleton
• in mutants there is growth plate dysplasia in the distal femur
• in mutants there is growth plate dysplasia in the proximal tibia
• mice display scoliosis by 2 months of age

hematopoietic system
• young mice display loss of corticomedullary demarcation
• young mice display thymic hypoplasia with loss of corticomedullary demarcation

integument
• at 16 weeks of age, mutants have lost the subcutaneous fat layer
• one third of mice over 16 weeks of age begin to lose their fur, whiskers and sometimes eyelashes
• hair follicles are atrophic in mutants at 16 weeks; there is an increase in number of apoptotic bodies hair follicles
• at 16 weeks of age, epidermis is atrophic with an increase in the number of apoptotic bodies in the basal layer

endocrine/exocrine glands
• young mice display loss of corticomedullary demarcation
• young mice display thymic hypoplasia with loss of corticomedullary demarcation


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
11/29/2016
MGI 6.06
The Jackson Laboratory