Phenotypes associated with this allele

• Allele Symbol: Cacnb1^tm1Rgg
• Allele Name: targeted mutation 1, Ronald G Gregg
• Allele ID: MGI:2181804
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cacnb1^tm1Rgg/Cacnb1^tm1Rgg	involves: 129S7/SvEvBrd	MGI:2658925
cx2	Cacnb1^tm1Rgg/Cacnb1^tm1Rgg Tg(ACTA1-Cacnb1)1Rgg/0	involves: 129S7/SvEvBrd	MGI:3843803

Genotype
MGI:2658925

hm1

• Allelic Composition: Cacnb1^tm1Rgg/Cacnb1^tm1Rgg
• Genetic Background: involves: 129S7/SvEvBrd

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

Muscle mass reduction and disorganization of myofibrils in Cacnb1^tm1Rgg/Cacnb1^tm1Rgg mice

mortality/aging

perinatal lethality, complete penetrance ( J:37052 )

• die at birth from asphyxia

behavior/neurological

abnormal posture ( J:37052 )

• fetuses have flexed necks and extremities

absent prenatal movement ( J:37052 )

• fetuses fail to show any movement

limbs/digits/tail

abnormal limb morphology ( J:37052 )

• thin limbs

muscle

abnormal skeletal muscle fiber morphology ( J:37052 )

• muscle contains myofibrils with well-defined Z-bands but the thick and thin filaments are disorganized

decreased skeletal muscle mass ( J:37052 )

abnormal muscle physiology ( J:37052 )

• in isolated myotubes, action potentials are normal but fail to elicit a calcium-transient

• L-type calcium current is decreased 10- to 20-fold in intercostals myotubes

impaired skeletal muscle contractility ( J:37052 )

• electrical field stimulation of E16 muscle fails to induce twitches, however contractures are induced by caffeine, although the force produced by the forelimb is reduced 20-30 fold, indicating a lack of excitation-contraction coupling

skeleton

abnormal spine curvature ( J:37052 )

• fetuses exhibit curvature of the spine

Genotype
MGI:3843803

cx2

• Allelic Composition: Cacnb1^tm1Rgg/Cacnb1^tm1Rgg; Tg(ACTA1-Cacnb1)1Rgg/0
• Genetic Background: involves: 129S7/SvEvBrd

vision/eye

vision/eye phenotype ( J:80080 , J:136113 )

N • both a- and b-waves appear normal in mutant mice (J:80080)

N • histological analysis indicates that retinal morphology is normal (J:80080)

N • mice exhibit normal electroretinograms (J:136113)