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Allele Symbol Allele Name Allele ID |
Stbd1tm1Bsn targeted mutation 1, Baodong Sun MGI:6356543 |
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| Summary |
2 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 N |
• after overnight fasting, 3-month-old male mice exhibit very low levels of glycogen in heart, skeletal, and liver tissues, similar to age- and sex-matched wild-type controls
• no obvious PAS+ glycogen staining is observed in liver
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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N |
• after overnight fasting, double mutant mice show normal protein expression of two key enzymes for glycogen synthesis (GYS2 and GBE1) in liver, indicating normal glycogen synthesis
• after overnight fasting, increase in LC3-II in the liver of double mutant mice is similar to that in single Gaatm1Rabn homozygotes, indicating normal autophagy activation
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• after overnight fasting, 3-month-old double mutant male mice show significantly higher heart muscle glycogen levels than wild-type controls or single Stbd1tm1Bsn homozygotes; however, glycogen contents in heart muscle are not significantly different from those in single Gaatm1Rabn homozygotes
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• after overnight fasting, 3-month-old double mutant male mice show significantly higher liver glycogen levels than wild-type controls or single Stbd1tm1Bsn homozygotes; however, liver glycogen content is only 27% of that in single Gaatm1Rabn homozygotes, consistent with a marked reduction in PAS+ glycogen staining
• at 13 months of age, fasting liver glycogen content in double mutant mice is significantly higher than that at 3 months of age, but only 40% of that in 13-month-old single Gaatm1Rabn homozygotes
• exogenous expression of human STBD1 in double mutant mice restores the liver lysosomal glycogen content to the level of single Gaatm1Rabn homozygotes
• at 3 months of age, fed liver glycogen levels in double mutant mice are similar to those in wild-type controls and single Gaatm1Rabn homozygotes
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• after overnight fasting, 3-month-old double mutant male mice show significantly higher skeletal muscle glycogen levels than wild-type controls or single Stbd1tm1Bsn homozygotes; however, glycogen contents in skeletal muscle are not significantly different from those in single Gaatm1Rabn homozygotes
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• after overnight fasting, 3-month-old double mutant male mice show significantly higher liver glycogen levels than wild-type controls or single Stbd1tm1Bsn homozygotes; however, liver glycogen content is only 27% of that in single Gaatm1Rabn homozygotes, consistent with a marked reduction in PAS+ glycogen staining
• at 13 months of age, fasting liver glycogen content in double mutant mice is significantly higher than that at 3 months of age, but only 40% of that in 13-month-old single Gaatm1Rabn homozygotes
• exogenous expression of human STBD1 in double mutant mice restores the liver lysosomal glycogen content to the level of single Gaatm1Rabn homozygotes
• at 3 months of age, fed liver glycogen levels in double mutant mice are similar to those in wild-type controls and single Gaatm1Rabn homozygotes
|
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• after overnight fasting, 3-month-old double mutant male mice show significantly higher heart muscle glycogen levels than wild-type controls or single Stbd1tm1Bsn homozygotes; however, glycogen contents in heart muscle are not significantly different from those in single Gaatm1Rabn homozygotes
|
|
|
• after overnight fasting, 3-month-old double mutant male mice show significantly higher heart muscle glycogen levels than wild-type controls or single Stbd1tm1Bsn homozygotes; however, glycogen contents in heart muscle are not significantly different from those in single Gaatm1Rabn homozygotes
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• after overnight fasting, 3-month-old double mutant male mice show significantly higher skeletal muscle glycogen levels than wild-type controls or single Stbd1tm1Bsn homozygotes; however, glycogen contents in skeletal muscle are not significantly different from those in single Gaatm1Rabn homozygotes
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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 06/12/2024 MGI 6.13 |
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