Mouse Genome Informatics
hm
    Zmpste24tm1Otin/Zmpste24tm1Otin
involves: 129P2/Ola * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• most nulls die by the age of 20 weeks

growth/size
• 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 mutants, fibrosis is seen along with infiltration of inflammatory cells
• 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

Mouse Models of Human Disease
OMIM IDRef(s)
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant; EDMD2 181350 J:76209
Lipodystrophy, Familial Partial, Type 2; FPLD2 151660 J:76209
Muscular Dystrophy, Limb-Girdle, Type 1B; LGMD1B 159001 J:76209