Phenotypes associated with this allele

• Allele Symbol: Col25a1^tm1.1Tiwa
• Allele Name: targeted mutation 1.1, Takeshi Iwatsubo
• Allele ID: MGI:5781011
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col25a1^tm1.1Tiwa/Col25a1^tm1.1Tiwa	B6.Cg-Col25a1^tm1.1Tiwa	MGI:5781120
cx2	Bax^tm1Sjk/Bax^tm1Sjk Col25a1^tm1.1Tiwa/Col25a1^tm1.1Tiwa	B6.Cg-Col25a1^tm1.1Tiwa Bax^tm1Sjk	MGI:5781124
cx3	Bax^tm1Sjk/Bax^tm1Sjk Col25a1^tm1.1Tiwa/Col25a1^+	B6.Cg-Col25a1^tm1.1Tiwa Bax^tm1Sjk	MGI:5781125
cx4	Col25a1^tm1.1Tiwa/Col25a1^tm1.1Tiwa Tg(Hlxb9-GFP)1Tmj/0	B6.Cg-Col25a1^tm1.1Tiwa Tg(Hlxb9-GFP)1Tmj	MGI:5781122

Genotype
MGI:5781120

hm1

• Allelic Composition: Col25a1^tm1.1Tiwa/Col25a1^tm1.1Tiwa
• Genetic Background: B6.Cg-Col25a1^tm1.1Tiwa

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

mortality/aging

neonatal lethality, complete penetrance ( J:206855 )

• despite being viable at E18.5, mice die shortly after birth

nervous system

abnormal motor neuron morphology ( J:206855 )

• at E18.5, mice have few spinal cord motor neuron of smaller size than in wild-type mice

decreased motor neuron number ( J:206855 )

• motor neurons have almost totally disappeared by E18.5

motor neuron degeneration ( J:206855 )

• motor neurons have almost totally disappeared by E18.5

• however, neurotrophic factors enhance survival of motor neurons in culture

muscle

abnormal skeletal muscle morphology ( J:206855 )

• thin

decreased skeletal muscle fiber diameter ( J:206855 )

centrally nucleated skeletal muscle fibers ( J:206855 )

respiratory system

respiratory failure ( J:206855 )

behavior/neurological

abnormal posture ( J:206855 )

• abnormal body curvature at birth

homeostasis/metabolism

cyanosis ( J:206855 )

• at birth

Genotype
MGI:5781124

cx2

• Allelic Composition: Bax^tm1Sjk/Bax^tm1Sjk; Col25a1^tm1.1Tiwa/Col25a1^tm1.1Tiwa
• Genetic Background: B6.Cg-Col25a1^tm1.1Tiwa Bax^tm1Sjk

nervous system

abnormal phrenic nerve innervation pattern to diaphragm ( J:206855 )

• at E14.5, motor neuron projections reach the diaphragm but fail to innervate the muscle fibers unlike in wild-type mice

Genotype
MGI:5781125

cx3

• Allelic Composition: Bax^tm1Sjk/Bax^tm1Sjk; Col25a1^tm1.1Tiwa/Col25a1⁺
• Genetic Background: B6.Cg-Col25a1^tm1.1Tiwa Bax^tm1Sjk

nervous system

abnormal phrenic nerve morphology ( J:206855 )

• slightly larger diameter than in wild-type mice at E14.5

Genotype
MGI:5781122

cx4

• Allelic Composition: Col25a1^tm1.1Tiwa/Col25a1^tm1.1Tiwa; Tg(Hlxb9-GFP)1Tmj/0
• Genetic Background: B6.Cg-Col25a1^tm1.1Tiwa Tg(Hlxb9-GFP)1Tmj

nervous system

increased neuron apoptosis ( J:206855 )

• progressive loss of post-mitotic motor neurons by apoptosis

decreased motor neuron number ( J:206855 )

• in the medial and lateral motor columns of the brachial spinal cord at E13.5

• few neurons remain at E14.5

• despite numbers at E11.5, mice exhibit fewer motor neurons in the upper cervical, thoracic and lumbosacral spinal cord compared with wild-type mice

motor neuron degeneration ( J:206855 )

abnormal phrenic nerve morphology ( J:206855 )

• at E12.5, terminal arborization is severely disturbed compare with wild-type mice

• at E13.5, the main nerve trunk is thinner compared with wild-type mice

abnormal phrenic nerve innervation pattern to diaphragm ( J:206855 )

• while the phrenic nerve axon bundle makes contact with the diaphragm, no branches emanate from the main nerve trunk with signs of withdrawal unlike in wild-type mice

• acetylcholine receptor (AChR) clusters fail to mature unlike in wild-type mice

• however, pre-patterned AChR clusters are present on myotubes

cellular

increased neuron apoptosis ( J:206855 )

• progressive loss of post-mitotic motor neurons by apoptosis