Phenotypes associated with this allele

• Allele Symbol: Gbe1^m1Yty
• Allele Name: mutation 1, Yu-Ting Yan
• Allele ID: MGI:4868492
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gbe1^m1Yty/Gbe1^m1Yty	C3HeB/FeJ-Gbe1^m1Yty	MGI:4868493

Genotype
MGI:4868493

hm1

• Allelic Composition: Gbe1^m1Yty/Gbe1^m1Yty
• Genetic Background: C3HeB/FeJ-Gbe1^m1Yty

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:167233 )

• mice die at mid-to-late gestation stages; no live-born mice are observed

cardiovascular system

blood vessel congestion ( J:167233 )

• in the venous system in the lung and liver at E14.5

liver vascular congestion ( J:167233 )

• at E14.5

pulmonary vascular congestion ( J:167233 )

• at E14.5

decreased cardiac muscle glycogen level ( J:167233 )

• in the ventricular and atrial chamber wall at E10.5

• in the heart at E14.5 and E16.5

• however, glycogen accumulation in the liver and skeletal muscle is normal

thin myocardium ( J:167233 )

• at E12.5 and at E13.5

abnormal heart ventricle morphology ( J:167233 )

• at E12.5, ventricular compaction is reduced compared to in wild-type mice

• at E16.5, ventricles exhibit hypertrabeculation and noncompaction compared to in wild-type mice

ventricular septal defect ( J:167233 )

• thin at E13.5 with a looser structure than in wild-type mice

• at E15.5, mice exhibit frank ventricular defects compared with wild-type mice

decreased heart left ventricle size ( J:167233 )

• in E15.5, E16.5, and stillborn mice

abnormal fetal cardiomyocyte proliferation ( J:167233 )

• hyperproliferation at E16.5

decreased heart rate ( J:167233 )

• E10.5

homeostasis/metabolism

decreased cardiac muscle glycogen level ( J:167233 )

• in the ventricular and atrial chamber wall at E10.5

• in the heart at E14.5 and E16.5

• however, glycogen accumulation in the liver and skeletal muscle is normal

edema ( J:167233 )

• generalized at E14.5

• in the liver at E15.5

liver/biliary system

liver vascular congestion ( J:167233 )

• at E14.5

respiratory system

pulmonary vascular congestion ( J:167233 )

• at E14.5

muscle

decreased cardiac muscle glycogen level ( J:167233 )

• in the ventricular and atrial chamber wall at E10.5

• in the heart at E14.5 and E16.5

• however, glycogen accumulation in the liver and skeletal muscle is normal

thin myocardium ( J:167233 )

• at E12.5 and at E13.5

abnormal fetal cardiomyocyte proliferation ( J:167233 )

• hyperproliferation at E16.5

cellular

abnormal fetal cardiomyocyte proliferation ( J:167233 )

• hyperproliferation at E16.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glycogen storage disease IV		DOID:2750	OMIM:232500	J:167233