Phenotypes associated with this allele

• Allele Symbol: Ecel1^em1Hiki
• Allele Name: endonuclease-mediated mutation 1, Hiroshi Kiyama
• Allele ID: MGI:6160000
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ecel1^em1Hiki/Ecel1^em1Hiki	involves: C57BL/6	MGI:6160010
cx2	Ecel1^em1Hiki/Ecel1^em1Hiki Tg(Hlxb9-GFP)1Tmj/0	involves: C57BL/6 * CBA	MGI:6160009

Genotype
MGI:6160010

hm1

• Allelic Composition: Ecel1^em1Hiki/Ecel1^em1Hiki
• Genetic Background: involves: C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:262090 )

• all F2 mice die immediately after birth because of respiratory failure

homeostasis/metabolism

cyanosis ( J:262090 )

• all F2 mice exhibit a cyanotic appearance

respiratory system

respiratory failure ( J:262090 )

Genotype
MGI:6160009

cx2

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

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