Phenotypes associated with this allele

• Allele Symbol: Cacnb2^tm1.1Mfre
• Allele Name: targeted mutation 1.1, Marc Freichel
• Allele ID: MGI:3762348
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Cacnb2^tm1Mfre/Cacnb2^tm1.1Mfre Myl2^tm1(cre)Krc/Myl2^+	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6N * FVB/N	MGI:3762360
cx2	Cacnb2^tm1.1Mfre/Cacnb2^tm1.1Mfre Tg(CAG-Bgeo/GFP)21Lbe/?	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6N * FVB/N	MGI:3762359

Genotype
MGI:3762360

cn1

• Allelic Composition: Cacnb2^tm1Mfre/Cacnb2^tm1.1Mfre; Myl2^tm1(cre)Krc/Myl2⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6N * FVB/N

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:126506 )

• mice die by E13.5

cardiovascular system

decreased heart rate ( J:126506 )

• the beating frequency of E13.5 heart explants is reduced compared to for wild-type hearts

abnormal myocardial fiber physiology ( J:126506 )

• calcium channel current density is reduced compared to in wild-type mice (-12.3+/-0.6 mV compared to -16.9+/-07 mV in wild-type mice)

embryo

abnormal vitelline vascular remodeling ( J:126506 )

• between E11.5 and E12.5, vascular remodeling of the primary capillary plexus fails to occur and a honeycomb-like network of tubules with enlarged and uniform diameters forms in the extra- and intraembryonic vasculature

Genotype
MGI:3762359

cx2

• Allelic Composition: Cacnb2^tm1.1Mfre/Cacnb2^tm1.1Mfre; Tg(CAG-Bgeo/GFP)21Lbe/?
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6N * FVB/N

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:126506 )

• mice die following E10.5 and are completely absorbed by E11.5

• however, treatment with a calcium channel agonist, 1 umol/L (-)-BayK 8644, partially rescues embryonic lethality with mice surviving until the end of E11.5

cardiovascular system

abnormal cardiovascular system morphology ( J:126506 )

thin myocardium ( J:126506 )

abnormal heart development ( J:126506 )

• at E10.5, a stenosis is frequently observed between the emerging right ventricle and the outflow tract

abnormal heart looping ( J:126506 )

• at E10.5, mice display abnormal heart looping

abnormal heart tube morphology ( J:126506 )

• at E10.5, mice display abnormal heart looping with amorphous heart tubes lying distorted within the pericardial cavity, and a stenosis is frequently observed between the emerging right ventricle and the outflow tract

pericardial effusion ( J:126506 )

• at E10.5, pericardial effusion is associated with hemorrhages

abnormal cardiovascular system physiology ( J:126506 )

decreased cardiac output ( J:126506 )

• at E10.5, hearts only exhibit barely noticeable tremors without any noticeable ejection volume

hemorrhage ( J:126506 )

• at E10.5, pericardial effusion is associated with hemorrhages

decreased heart rate ( J:126506 )

• 63+/-2.88 beats per minute compared to 120+/-3.15 beats per minute in wild-type mice

• however, no difference in heart rate is observed at E9.5

abnormal myocardial fiber physiology ( J:126506 )

• at E10.5, L-type calcium channel activity and calcium-induced calcium release is impaired resulting in diminished heart pumping

• calcium channel current density is reduced compared to in wild-type mice

• unlike wild-type cardiomyocytes, E9.5 cardiomyocytes fail to respond to catecholamine treatment

embryo

embryonic growth retardation ( J:126506 )

• unlike in wild-type mice, embryos size does not double between E9.5 and E10.5

pale yolk sac ( J:126506 )

abnormal vitelline vascular remodeling ( J:126506 )

• at E9.5, vascular remodeling of the primary capillary plexus fails to occur and a honeycomb-like network of tubules with enlarged and uniform diameters forms in the extra- and intraembryonic vasculature

nervous system

delayed brain development ( J:126506 )

• between E9.5 and E10.5

growth/size/body

abnormal face development ( J:126506 )

• between E9.5 and E10.5, mice exhibit poor growth of facial primordial tissue

embryonic growth retardation ( J:126506 )

• unlike in wild-type mice, embryos size does not double between E9.5 and E10.5

craniofacial

abnormal face development ( J:126506 )

• between E9.5 and E10.5, mice exhibit poor growth of facial primordial tissue

homeostasis/metabolism

pericardial effusion ( J:126506 )

• at E10.5, pericardial effusion is associated with hemorrhages

hematopoietic system

decreased hemangioblast number ( J:126506 )

• very few hemangioblasts are found in the blood vessels of the yolk sac

muscle

thin myocardium ( J:126506 )