Phenotypes associated with this allele

• Allele Symbol: Musk^tm1Vwi
• Allele Name: targeted mutation 1, Veit Witzemann
• Allele ID: MGI:2449789
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Musk^tm1Vwi/Musk^tm1Vwi Tg(Ckmm-cre)5Khn/0	involves: C57BL/6J * FVB	MGI:3622117
cn2	Musk^tm1Vwi/Musk^tm1.1Vwi Tg(Ckmm-cre)5Khn/0	involves: C57BL/6J * FVB	MGI:3622118

Genotype
MGI:3622117

cn1

• Allelic Composition: Musk^tm1Vwi/Musk^tm1Vwi; Tg(Ckmm-cre)5Khn/0
• Genetic Background: involves: C57BL/6J * FVB

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

mortality/aging

premature death ( J:106867 )

• die before P30

muscle

muscle weakness ( J:106867 )

• at around 2 to 3 weeks of age, develop severe muscle weakness with impaired mobility and difficulty breathing, eating, and drinking

nervous system

abnormal phrenic nerve innervation pattern to diaphragm ( J:106867 )

• in older mice, phrenic nerve innervation is seen outside the central band of the diaphragm muscle

abnormal neuromuscular synapse morphology ( J:106867 )

• from P20 on, endplates in the diaphragm show decreased acetylcholine receptor densities and begin to disintegrate

• after P20 neuromuscular junction endplates are seen outside the central band where they are normally confined

behavior/neurological

decreased grip strength ( J:106867 )

• grip strength from P12 onwards does not increase, unlike in wild-type mice

growth/size/body

weight loss ( J:106867 )

• normal weight gain until about 3 to 4 weeks of age then weight gain stops and weight loss is seen

skeleton

kyphosis ( J:106867 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital myasthenic syndrome 9		DOID:0110670	OMIM:616325	J:106867

Genotype
MGI:3622118

cn2

• Allelic Composition: Musk^tm1Vwi/Musk^tm1.1Vwi; Tg(Ckmm-cre)5Khn/0
• Genetic Background: involves: C57BL/6J * FVB

mortality/aging

premature death ( J:106867 )

• die before P30

muscle

muscle weakness ( J:106867 )

• at around 2 to 3 weeks of age, develop severe muscle weakness with impaired mobility and difficulty breathing, eating, and drinking

nervous system

abnormal phrenic nerve innervation pattern to diaphragm ( J:106867 )

• in older mice, phrenic nerve innervation is seen outside the central band of the diaphragm muscle

abnormal neuromuscular synapse morphology ( J:106867 )

• from P20 on, endplates in the diaphragm show decreased acetylcholine receptor densities and begin to disintegrate

• after P20 neuromuscular junction endplates are seen outside the central band where they are normally confined

behavior/neurological

decreased grip strength ( J:106867 )

• grip strength from P12 onwards does not increase, unlike in wild-type mice

growth/size/body

weight loss ( J:106867 )

• normal weight gain until about 3 to 4 weeks of age then weight gain stops and weight loss is seen

skeleton

kyphosis ( J:106867 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital myasthenic syndrome 9		DOID:0110670	OMIM:616325	J:106867