Phenotypes associated with this allele

• Allele Symbol: Ecel1^tm1Hiki
• Allele Name: targeted mutation 1, Hiroshi Kiyama
• Allele ID: MGI:4462383
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ecel1^tm1Hiki/Ecel1^tm1Hiki	B6.129-Ecel1^tm1Hiki	MGI:4462385
cx2	Ecel1^tm1Hiki/Ecel1^tm1Hiki Tg(Hlxb9-GFP)1Tmj/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:6160055

Genotype
MGI:4462385

hm1

• Allelic Composition: Ecel1^tm1Hiki/Ecel1^tm1Hiki
• Genetic Background: B6.129-Ecel1^tm1Hiki

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

mortality/aging

neonatal lethality, complete penetrance ( J:160510 )

nervous system

nervous system phenotype ( J:160510 )

N • mice exhibit normal numbers of motor neurons, motor neuron projections, acetylcholine clustering in the postsynaptic structure, central projections of sensory neurons, and peripheral sensory projections

abnormal innervation pattern to muscle ( J:160510 )

• innervation of the latissimus dorsi and intercostal muscles is reduced compared to in wild-type mice

• however, the dorsal root ganglion neurons are normal

abnormal neuromuscular synapse morphology ( J:160510 )

• nerve terminals exhibit a tendency towards decreased mitochondria and synaptic vesicles compared to in wild-type mice

• fewer neuromuscular junctions are present in the diaphragm compared to in wild-type mice

• however, mice exhibit normal overall arrangement of the presynaptic terminal, muscle cell, and terminal Schwann cell

abnormal phrenic nerve morphology ( J:160510 )

• at E15, the phrenic nerve lacks fine branches unlike in wild-type mice

• the phrenic nerve has only one sixths of the number of branching fibers compared with wild-type mice

abnormal phrenic nerve innervation pattern to diaphragm ( J:160510 )

• the phrenic nerve trunk fails to enter and reach the appropriate position in the diaphragm

respiratory system

respiratory failure ( J:160510 )

muscle

thin diaphragm muscle ( J:160510 )

Genotype
MGI:6160055

cx2

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

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