Phenotypes associated with this allele

• Allele Symbol: Adam22^tm1Sag
• Allele Name: targeted mutation 1, Koji Sagane
• Allele ID: MGI:3584137
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Adam22^tm1Sag/Adam22^tm1Sag	either: B6.Cg-Adam22^tm1Sag or (involves: C57BL/6 * C57BL/6N * CBA)	MGI:3589438
hm2	Adam22^tm1Sag/Adam22^tm1Sag	involves: C57BL/6 * CBA	MGI:4441317
cx3	Adam22^tm1Sag/Adam22^tm1Sag Lgi4^tm1Sjm/Lgi4^tm1Sjm	involves: C57BL/6 * CBA * SJL	MGI:4849631

Genotype
MGI:3589438

hm1

• Allelic Composition: Adam22^tm1Sag/Adam22^tm1Sag
• Genetic Background: either: B6.Cg-Adam22^tm1Sag or (involves: C57BL/6 * C57BL/6N * CBA)

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

Uncoordinated movements in Adam22^tm1Sag/Adam22^tm1Sag mice

mortality/aging

postnatal lethality, complete penetrance ( J:99692 )

• start to die after P10 and all die before P20

behavior/neurological

ataxia ( J:99692 )

• all display severe ataxia after P10

• unable to support themselves on hindlimbs at P18

convulsive seizures ( J:99692 )

• occasionally observe convulsive seizures

growth/size/body

decreased body size ( J:99692 )

decreased body weight ( J:99692 )

• average body weight is approximately half that of controls at P10

nervous system

convulsive seizures ( J:99692 )

• occasionally observe convulsive seizures

abnormal Schwann cell morphology ( J:99692 )

• higher density of pro-myelinating Schwann cells in the sciatic nerve and delay in differentiation of Schwann cells

abnormal myelination ( J:99692 )

• lack of myelin or thin myelin in the sciatic nerves and trigeminal nerves, however myelin formation in spinal cord and brain is normal

cellular

abnormal Schwann cell morphology ( J:99692 )

• higher density of pro-myelinating Schwann cells in the sciatic nerve and delay in differentiation of Schwann cells

Genotype
MGI:4441317

hm2

• Allelic Composition: Adam22^tm1Sag/Adam22^tm1Sag
• Genetic Background: involves: C57BL/6 * CBA

mortality/aging

neonatal lethality, incomplete penetrance ( J:166449 )

• most mice die immediately after birth

nervous system

abnormal glial cell morphology ( J:166449 )

• enteric sections exhibit fewer glial cells than in wild-type mice

abnormal neuron morphology ( J:158973 )

• cultured primary neurons cannot be myelinated by Rat Schwann cells unlike similarly treated neurons from heterozygous mice

demyelination ( J:158973 , J:166449 )

• in the sciatic nerve at P12 that is less severe than in Lgi4^clp homozygotes (J:158973)

• of peripheral nerves (J:166449)

growth/size/body

decreased body weight ( J:166449 )

• at P1 and P12

cellular

abnormal glial cell morphology ( J:166449 )

• enteric sections exhibit fewer glial cells than in wild-type mice

Genotype
MGI:4849631

cx3

• Allelic Composition: Adam22^tm1Sag/Adam22^tm1Sag; Lgi4^tm1Sjm/Lgi4^tm1Sjm
• Genetic Background: involves: C57BL/6 * CBA * SJL

mortality/aging

neonatal lethality, incomplete penetrance ( J:166449 )

• most mice die immediately after birth

nervous system

abnormal glial cell morphology ( J:166449 )

• fewer glial cells form from cultured gut neural crest stem cells compared to when wild-type cells are used

• enteric sections exhibit fewer glial cells than in wild-type mice

demyelination ( J:166449 )

• of peripheral nerves

growth/size/body

decreased body size ( J:166449 )

decreased body weight ( J:166449 )

• at P1 and P12

postnatal growth retardation ( J:166449 )

limbs/digits/tail

abnormal forelimb morphology ( J:166449 )

• arthrogryposis-like paw

cellular

abnormal glial cell morphology ( J:166449 )

• fewer glial cells form from cultured gut neural crest stem cells compared to when wild-type cells are used

• enteric sections exhibit fewer glial cells than in wild-type mice