Phenotypes associated with this allele

• Allele Symbol: Pabpn1^tm1.2Gpvl
• Allele Name: targeted mutation 1.2, Grace Pavlath
• Allele ID: MGI:6110860
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pabpn1^tm1.2Gpvl/Pabpn1^tm1.2Gpvl	involves: C57BL/6 * FVB/N	MGI:6111175
ht2	Pabpn1^tm1.2Gpvl/Pabpn1^+	involves: C57BL/6 * FVB/N	MGI:6111174

Genotype
MGI:6111175

hm1

• Allelic Composition: Pabpn1^tm1.2Gpvl/Pabpn1^tm1.2Gpvl
• 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:6111174

ht2

• Allelic Composition: Pabpn1^tm1.2Gpvl/Pabpn1⁺
• Genetic Background: involves: C57BL/6 * FVB/N

muscle

decreased skeletal muscle fiber diameter ( J:243638 )

♂ • in tibialis anterior (TA) muscles at 6 months and rectus femoris (RF) muscles at 6 and 18 months

increased skeletal muscle fiber diameter ( J:243638 )

♂ • in tibialis anterior (TA) muscles at 18 months

centrally nucleated skeletal muscle fibers ( J:243638 )

♂ • in tibialis anterior (TA) muscles at 6 months

♂ • in rectus femoris (RF) muscles at 6 and 18 months and tibialis anterior (TA) muscles at 18 months

skeletal muscle atrophy ( J:243638 )

♂ • in anterior (TA) muscles at 6 months and rectus femoris (RF) muscles at 6 and 18 months

skeletal muscle hypertrophy ( J:243638 )

♂ • in 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 reduced levels of SDHB (Complex II), COX1 (Complex IV), and ATP5A (Complex V) proteins in rectus femoris (RF) muscles at 3 months

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

♂ • succinate dehydrogenase activity (SDH, Complex II) in tibialis anterior (TA) muscles using nitro blue tetrazolium assay

♂ • significantly reduced NADH:ubiquinone oxidoreductase (Complex I) activity in rectus femoris (RF) muscles at 12 months

homeostasis/metabolism

abnormal nucleotide metabolism ( J:243638 )

♂ • decreased RNA poly(A) tail length at 3 months: longest poly(A) tails reduced by 20% in length

behavior/neurological

limb grasping ( J:243638 )

• hind limbs from age 9 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
oculopharyngeal muscular dystrophy		DOID:11719	OMIM:164300	J:243638