Phenotypes Associated with This Genotype

Genotype
MGI:6160055

• Allelic Composition: Ecel1^tm1Hiki/Ecel1^tm1Hiki; Tg(Hlxb9-GFP)1Tmj/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

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

nervous system

abnormal innervation pattern to muscle ( J:262090 )

• while most motor nerves reach muscles, their fine branches are poorly arborized

• in the hip, thigh, and lower leg, the number of motor nerve terminals is reduced to over half of the muscles and is dramatically reduced in the lateral, middle, and medial muscles of the foot

• however, the width of motor nerves (the gracilis motor nerve) and the number of individual axons within motor nerves are normal

abnormal motor neuron innervation pattern ( J:262090 )

• motor nerves exhibit impaired axonal arborization in skeletal muscles in the forelimbs and hindlimbs, first seen around E12.5-E13.5

• axonal arborization defect in foot muscles is more severe than in other hindlimb muscles, with almost all fine branches absent in the E17.5 lateral, medial and medial muscles of the foot

• axonal arborization defects are more severe at the most distal part of the limb compared with proximal regions

• however, motor nerves exhibit normal trajectory patterns from the spinal cord to skeletal muscles and motor nerves develop a normal number of fine branches in some muscles such as vastus lateralis and biceps femoris

• early phase of axonal outgrowth is not affected

abnormal neuromuscular synapse morphology ( J:262090 )

• the number of neuromuscular junctions is reduced in the gracilis anterior muscle

• number of innervated neuromuscular junctions is reduced in severely affected muscle

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
distal arthrogryposis		DOID:0050646	OMIM:PS108120	J:262090