Phenotypes associated with this allele

• Allele Symbol: Pabpn1^tm2.2Gpvl
• Allele Name: targeted mutation 2.2, Grace Pavlath
• Allele ID: MGI:6110864
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pabpn1^tm2.2Gpvl/Pabpn1^tm2.2Gpvl	involves: C57BL/6 * FVB/N	MGI:6111177
ht2	Pabpn1^tm2.2Gpvl/Pabpn1^+	involves: C57BL/6 * FVB/N	MGI:6111179

Genotype
MGI:6111177

hm1

• Allelic Composition: Pabpn1^tm2.2Gpvl/Pabpn1^tm2.2Gpvl
• Genetic Background: involves: C57BL/6 * FVB/N

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

mortality/aging

prenatal lethality ( J:243638 )

• no pups born

Genotype
MGI:6111179

ht2

• Allelic Composition: Pabpn1^tm2.2Gpvl/Pabpn1⁺
• Genetic Background: involves: C57BL/6 * FVB/N

muscle

muscle phenotype ( J:243638 )

♂N • centrally nucleated fibers in rectus femoris (RF) and tibialis anterior (TA) muscles at 6 months

decreased skeletal muscle fiber diameter ( J:243638 )

♂ • in rectus femoris (RF) and tibialis anterior (TA) muscles at 6 months

increased skeletal muscle fiber diameter ( J:243638 )

♂ • in rectus femoris (RF) and tibialis anterior (TA) muscles at 18 months

skeletal muscle atrophy ( J:243638 )

♂ • in rectus femoris (RF) and tibialis anterior (TA) muscles at 6 months

skeletal muscle hypertrophy ( J:243638 )

♂ • in rectus femoris (RF) and tibialis anterior (TA) muscles at 18 months

cellular

abnormal mitochondrial physiology ( J:243638 )

• reduced expression of mitochondrial proteins in rectus femoris (RF) muscles at 3 months

abnormal oxidative phosphorylation ( J:243638 )

• significantly increased levels of SDHB (Complex II) proteins in rectus femoris (RF) muscles

• succinate dehydrogenase activity (SDH, Complex II) in rectus femoris (RF) muscles using nitro blue tetrazolium assay

homeostasis/metabolism

abnormal nucleotide metabolism ( J:243638 )

♂ • decreased RNA poly(A) tail length at 3 months: longest poly(A) tails reduced by 50% in length