Phenotypes associated with this allele

• Allele Symbol: cab
• Allele Name: cardiac abnormality
• Allele ID: MGI:1856812
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	cab/cab	STOCK Cacna1s^mdg	MGI:2658886

Genotype
MGI:2658886

hm1

• Allelic Composition: cab/cab
• Genetic Background: STOCK Cacna1s^mdg

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

mortality/aging

perinatal lethality, complete penetrance ( J:6195 )

• die about half a day prior to birth or at term

cardiovascular system

abnormal myocardium layer morphology ( J:6195 )

• exhibit numerous vacuolated cells near the ventricular cavities and throughout the atrial and ventricular walls

• the myocardium contains prominent foci of mesenchyme-like cells

abnormal heart atrium morphology ( J:6195 )

• heart often exhibits atrial and/or ventricular chambers engorged with blood, however the great vessels appear normal

abnormal heart ventricle morphology ( J:6195 )

• heart often exhibits atrial and/or ventricular chambers engorged with blood, however the great vessels appear normal

hematoma ( J:6195 )

• occasionally, small hematomas are present on the extremities

homeostasis/metabolism

cyanosis ( J:6195 )

• newborns become cyanotic

abnormal glucose homeostasis ( J:7797 )

• metabolism of a glucose analog by cells yields only 20% of the normal amount of carbon dioxide indicating reduced efficiency of glucose metabolism, however placental transport of glucose is normal

hypoglycemia ( J:7797 )

• severe prenatal hypoglycemia

decreased glycogen level ( J:6195 , J:7797 )

• produce no histologically detectable glycogen in the liver, lung, heart, or skeletal muscle (J:6195)

• fetuses have only 4% of the normal amount of hepatic glycogen and only 39% of the normal cardiac glycogen reserve, coupled with lower specific activities of glycogen synthase and phosphorylase (J:7797)

abnormal nucleotide metabolism ( J:7797 )

• lower ATP concentrations in organs

behavior/neurological

bradykinesia ( J:6195 )

• fetuses show greatly reduced spontaneous or induced movements

liver/biliary system

abnormal liver morphology ( J:6195 , J:7797 )

• fetal liver lacks normally vacuolated regions (J:6195)

• fetuses have only 4% of the normal amount of hepatic glycogen and show reduced levels of glucose in the liver (J:7797)

respiratory system

abnormal lung epithelium morphology ( J:6195 )

• duct epithelium of the lung has no characteristic secretory cells

atelectasis ( J:6195 )

• neonatal lungs fail to inflate

respiratory failure ( J:7797 )

• newborns fail to breathe

muscle

abnormal myocardium layer morphology ( J:6195 )

• exhibit numerous vacuolated cells near the ventricular cavities and throughout the atrial and ventricular walls

• the myocardium contains prominent foci of mesenchyme-like cells