Phenotypes Associated with This Genotype

Genotype
MGI:6160009

• Allelic Composition: Ecel1^em1Hiki/Ecel1^em1Hiki; Tg(Hlxb9-GFP)1Tmj/0
• Genetic Background: involves: C57BL/6 * CBA

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

mortality/aging

perinatal lethality, complete penetrance ( J:260240 )

nervous system

abnormal axon guidance ( J:260240 )

• mutants exhibit a variable penetrance of defects in axon guidance of abducens nerves, with the abducens nerves stopping extension of their axons towards the target muscles around the eye is some mutants at E11.5 and substantial numbers of abducens nerves following the wrong pathway in some mutants and some stopping extension of their axons toward their target muscles without any correct innervation at E12.5, indicating axon guidance defects

abnormal motor neuron innervation pattern ( J:260240 , J:262090 )

• abnormal motor innervation is seen in the hindlimbs (J:262090)

• the number of motor nerve terminals is decreased in the gracilis anterior muscle and the rectus femoris muscle (J:262090)

abnormal phrenic nerve innervation pattern to diaphragm ( J:262090 )

• axonal arborization of motor nerves is impaired in the diaphragm

abnormal abducens nerve morphology ( J:260240 )

• reduction in nerve length of abducens nerves

cellular

abnormal axon guidance ( J:260240 )

• mutants exhibit a variable penetrance of defects in axon guidance of abducens nerves, with the abducens nerves stopping extension of their axons towards the target muscles around the eye is some mutants at E11.5 and substantial numbers of abducens nerves following the wrong pathway in some mutants and some stopping extension of their axons toward their target muscles without any correct innervation at E12.5, indicating axon guidance defects

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