Phenotypes Associated with This Genotype

Genotype
MGI:6316981

• Allelic Composition: Col13a1^tm3.1Pih/Col13a1^tm3.1Pih
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

growth/size/body

postnatal growth retardation ( J:242846 )

• reduced body weight at puberty and when aging but not in adulthood

muscle

abnormal soleus morphology ( J:242846 )

• the soleus muscle is smaller in size at P84

decreased soleus weight ( J:242846 )

• soleus muscle weight is decreased at P84 but is similar to wild-type mice at the onset of neuromuscular junction maturity at P28

abnormal skeletal muscle fiber morphology ( J:242846 )

• increase in proportion of small muscle fibers and a slight increase in number of centrally located nuclei both in the diaphragm and soleus, indicating muscle regeneration

• small muscle fibers are scattered and angular in shape in the soleus muscle

skeletal muscle fiber atrophy ( J:242846 )

• progressive atrophy of the slow muscle fibers in the soleus

centrally nucleated skeletal muscle fibers ( J:242846 )

• slight increase in the number of centrally located nuclei both in the diaphragm and soleus

abnormal diaphragm morphology ( J:242846 )

• the diaphragm is pressed deeper towards the thoracic cavity

abnormal skeletal muscle fiber type ratio ( J:242846 )

• marker analysis indicates a shift in the muscle fiber type distribution towards fast/mixed at the expense of slow muscle fibers in the soleus but not diaphragm

muscle weakness ( J:242846 )

♂ • males show a reduced grid hanging time indicating muscle weakness

♂ • males treated with 3,4-diaminopyridine show improved grid hanging time

nervous system

abnormal motor neuron morphology ( J:242846 )

• terminal branching complexity of motor axons is decreased, with decreased level of terminal divisions as well as number of terminal branches and tips

abnormal neuromuscular synapse morphology ( J:242846 )

• neuromuscular synapses do not reach full size, alignment or complexity

• acetylcholine receptor clusters remain small and immature in neuromuscular junction, with cluster size decreased by 33% and 41% in P28 and P84 mice

• the acetylcholine-containing vesicles do not exclusively accumulate at the nerve terminus even at P84, but are also seen in the pre-terminal axon

• active zone numbers are reduced in neuromuscular junctions

cellular

abnormal endocytosis ( J:242846 )

• endocytosis is decreased in the nerve termini in the diaphragm

limbs/digits/tail

abnormal soleus morphology ( J:242846 )

• the soleus muscle is smaller in size at P84

decreased soleus weight ( J:242846 )

• soleus muscle weight is decreased at P84 but is similar to wild-type mice at the onset of neuromuscular junction maturity at P28

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital myasthenic syndrome 19		DOID:0110673	OMIM:616720	J:242846