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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gaatm1Vdp
targeted mutation 1, Ans T van der Ploeg
MGI:2179961
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Gaatm1Vdp/Gaatm1Vdp B6.129P2-Gaatm1Vdp MGI:3619141
hm2
Gaatm1Vdp/Gaatm1Vdp either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB) MGI:3619140


Genotype
MGI:3619141
hm1
Allelic
Composition
Gaatm1Vdp/Gaatm1Vdp
Genetic
Background
B6.129P2-Gaatm1Vdp
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gaatm1Vdp mutation (0 available); any Gaa mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• unlike wild-type mice, homozygotes show an age-dependent decrease in (dorsiflexor) muscle mass, with an 11% and 24% mass reduction noted at 13 and 20 months, respectively
• one-third of the decline in muscle performance is attributed to muscle atrophy
• the remaining two/thirds are attributed to reduced muscle quality i.e. a reduction in mechanical performance per unit muscle mass
• no decline in protein content per unit muscle mass is observed
• mutant dorsiflexor muscles exhibit a normal isometric torque at 7 months, but show a ~50% reduction between 7 and 13 months, with no further changes thereafter
• mutant dorsiflexor muscles display a 29%, 53%, and 68% reduction in peak power at 7, 13, and 20 months, respectively, with no further changes thereafter
• the mutant dorsiflexor complex displays a 25% reduction in optimal shortening angular velocity at 7, 13, and 20 months
• mutant muscles show no significant differences in the rise or the half-relaxation time of the isometric torque, suggesting normal calcium handling

growth/size/body
• at 20 months, wild-type mice show a significant increase in body mass; in contrast, age-matched mutant mice can be either obese or lean




Genotype
MGI:3619140
hm2
Allelic
Composition
Gaatm1Vdp/Gaatm1Vdp
Genetic
Background
either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gaatm1Vdp mutation (0 available); any Gaa mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• at 32 weeks, homozygotes exhibit a round, swollen and pale heart relative to the smaller, oval and darker stained heart of wild-type mice
• at 13 weeks, homozygotes display large glycogen-containing lysosomes in heart muscle fibers
• at 32 weeks of age, the heart is round rather than oval
• at 32 weeks, homozygotes display cardiac enlargement
• at 32 weeks, several homozygotes display an abnormal electrocardiogram with a high voltage QRS complex
• at 9 months, homozygotes are viable and fertile but exhibit signs of a developing cardiomyopathy in the absence of overt clinical symptoms

growth/size/body
• at 32 weeks, homozygotes display cardiac enlargement

homeostasis/metabolism
• at P8, homozygotes display generalized and progressive glycogen storage, with glycogen-containing lysosomes detected in liver, heart and skeletal muscle cells, smooth muscle cells of blood vessels, Schwann cells, and anterior horn cells

muscle
• at 13 weeks, homozygotes display large glycogen-containing lysosomes in heart muscle fibers
• at 9 months, homozygotes are viable and fertile but exhibit signs of a developing cardiomyopathy in the absence of overt clinical symptoms
• at 6 weeks, homozygotes display large glycogen-containing lysosomes in between and parallel to the fibrils of the femoral and sural muscles, triceps and skeletal muscle of the tongue; more numerous focal deposits of glycogen are detected by 13 weeks of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
glycogen storage disease II DOID:2752 OMIM:232300
J:45386





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory