Phenotypes Associated with This Genotype

Genotype
MGI:5318858

• Allelic Composition: Mnx1^tm4(cre)Tmj/Mnx1⁺; Smn1^tm1Cdid/Smn1^tm1Cdid; Grm7^{Tg(SMN2)89Ahmb}/Grm7⁺
• Genetic Background: involves: 129 * 129S1/Sv * C57BL/6 * FVB

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

mortality/aging

postnatal lethality, complete penetrance ( J:183080 )

• median survival of 12 days

nervous system

nervous system phenotype ( J:183080 )

N • neuromuscular junctions are similar to controls in the intercostal and triangularis sterni muscles

abnormal innervation ( J:183080 )

• decrease in cardiac autonomic innervation

decreased motor neuron number ( J:183080 )

• in L3-L5 spinal cord sections but not in the cervical or thoracic regions

cardiovascular system

decreased heart rate ( J:183080 )

• by P9

irregular heartbeat ( J:183080 )

• end-stage mice display skipped or dropped beats

prolonged PR interval ( J:183080 )

• at P9-P11

prolonged QT interval ( J:183080 )

• at P9-P11

behavior/neurological

behavior/neurological phenotype ( J:183080 )

N • ambulatory throughout life

lethargy ( J:183080 )

• early in life

• outgrow this passive behavior after P6

abnormal motor coordination/balance ( J:183080 )

• lateral instability of the hind limbs

abnormal righting response ( J:183080 )

• significantly improved righting response

growth/size/body

decreased body weight ( J:183080 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Werdnig-Hoffmann disease		DOID:13137	OMIM:253300	J:183080