Phenotypes associated with this allele

• Allele Symbol: Pvalb^tm1Swal
• Allele Name: targeted mutation 1, Beat Schwaller
• Allele ID: MGI:2652272
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pvalb^tm1Swal/Pvalb^tm1Swal	involves: 129P2/OlaHsd * C57BL/6	MGI:2652278
hm2	Pvalb^tm1Swal/Pvalb^tm1Swal	involves: 129P2/OlaHsd * C57BL/6J	MGI:3686622
cx3	Calb1^tm1Mpin/Calb1^tm1Mpin Pvalb^tm1Swal/Pvalb^tm1Swal	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3686619

Genotype
MGI:2652278

hm1

• Allelic Composition: Pvalb^tm1Swal/Pvalb^tm1Swal
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

muscle

abnormal muscle contractility ( J:53121 )

• prolonged contraction-relaxtion cycle of fast-twitch muscles

• ~40% increase in the force generated during a single twitch relative to wild-type

Genotype
MGI:3686622

hm2

• Allelic Composition: Pvalb^tm1Swal/Pvalb^tm1Swal
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

cellular

abnormal mitochondrial morphology ( J:113147 )

• mitochondrial volume density in peripheral region of Purkinje cells within a subplasmalemmal cytoplasmic compartement of 1.5 microns is nearly double in mutant cells

• volume density of central mitochondria is not different from wild-type

• more mitochondria are present in the peripheral regions of Purkinje cells in mutants

abnormal Purkinje cell mitochondrial morphology ( J:113147 )

• total mitochondrial volume density in Purkinje cells of mutants is increased by ~40% compared to controls

• the surface of the membrane-enclosed cisternae just below the plasma membrane (sPL-sER) per surface of plasma membrane ratio is 30-40% smaller in Purkinje cells of mutants

nervous system

abnormal Purkinje cell mitochondrial morphology ( J:113147 )

• total mitochondrial volume density in Purkinje cells of mutants is increased by ~40% compared to controls

• the surface of the membrane-enclosed cisternae just below the plasma membrane (sPL-sER) per surface of plasma membrane ratio is 30-40% smaller in Purkinje cells of mutants

Genotype
MGI:3686619

cx3

• Allelic Composition: Calb1^tm1Mpin/Calb1^tm1Mpin; Pvalb^tm1Swal/Pvalb^tm1Swal
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J

cellular

abnormal Purkinje cell mitochondrial morphology ( J:113147 )

• total mitochondrial volume density in Purkinje cells of mutants is increased by ~40% compared to controls, similar to Pvalb single mutants

nervous system

abnormal Purkinje cell morphology ( J:113147 )

• the surface of the membrane-enclosed cisternae just below the plasma membrane (sPL-sER) per surface of plasma membrane ratio is 30-40% smaller in Purkinje cells of mutants similar to Pvalb single mutants

abnormal Purkinje cell mitochondrial morphology ( J:113147 )

• total mitochondrial volume density in Purkinje cells of mutants is increased by ~40% compared to controls, similar to Pvalb single mutants