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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Musktm2Vwi
targeted mutation 2, Veit Witzemann
MGI:3815474
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Musktm2Vwi/Musktm2Vwi Not Specified MGI:3815536
ht2
Musktm1.1Vwi/Musktm2Vwi Not Specified MGI:3815537


Genotype
MGI:3815536
hm1
Allelic
Composition
Musktm2Vwi/Musktm2Vwi
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice exhibit a normal lifespan (J:141024)
• mice exhibit a normal lifespan (J:141024)

muscle
N
• mice show no signs of muscle weakness (J:141024)
• mice show no signs of muscle weakness (J:141024)

behavior/neurological
N
• mice exhibit normal behavior (J:141024)
• mice exhibit normal behavior (J:141024)

growth/size/body
N
• mice are of normal weight (J:141024)
• mice are of normal weight (J:141024)




Genotype
MGI:3815537
ht2
Allelic
Composition
Musktm1.1Vwi/Musktm2Vwi
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 40% of male mice die between the second and fourth month of life (J:141024)
• however, female mice do not exhibit premature death (J:141024)
• 40% of male mice die between the second and fourth month of life (J:141024)
• however, female mice do not exhibit premature death (J:141024)

muscle
• after 3 weeks, mice exhibit reduced muscle mass compared to wild type mice in the pelvic and scapular regions (J:141024)
• after 3 weeks, mice exhibit reduced muscle mass compared to wild type mice in the pelvic and scapular regions (J:141024)
• muscle strength produced by single or titanic stimuli is reduced compared to in wild-type mice while the degree of fatigue remains the same (J:141024)
• the time to peak or contraction time and half relaxation time of a direct-evoked single twitch is prolonged compared to in wild-type muscle (J:141024)
• unlike in wild-type mice, the diaphragm is unable to maintain unique tentanic contractions or repetitive titanic contractions indicating reduced fatigue resistance (J:141024)
• the twitch to titanic ratio of the diaphragm after nerve stimulation is double wild-type (J:141024)
• muscle strength produced by single or titanic stimuli is reduced compared to in wild-type mice while the degree of fatigue remains the same (J:141024)
• the time to peak or contraction time and half relaxation time of a direct-evoked single twitch is prolonged compared to in wild-type muscle (J:141024)
• unlike in wild-type mice, the diaphragm is unable to maintain unique tentanic contractions or repetitive titanic contractions indicating reduced fatigue resistance (J:141024)
• the twitch to titanic ratio of the diaphragm after nerve stimulation is double wild-type (J:141024)
• mice exhibit weakness of the pelvic muscle that leads to a waddling gait unlike (J:141024)
• mice exhibit weakness of the pelvic muscle that leads to a waddling gait unlike (J:141024)

nervous system
• axons of the nerves innervating the diaphragm exhibit overgrowth and increased branching compared to in wild-type mice (J:141024)
• axons of the nerves innervating the diaphragm exhibit overgrowth and increased branching compared to in wild-type mice (J:141024)
• axons are increased in length and extend from the main nerve trunk to the medial and/or lateral side of the diaphragm compared to in wild-type mice (J:141024)
• axons are increased in length and extend from the main nerve trunk to the medial and/or lateral side of the diaphragm compared to in wild-type mice (J:141024)
• unlike in wild-type mice, axons at the NMJs in the diaphragm exhibit sprouting and retraction bulbs and fail to form the normal Pretzel-like shaped post-synpatic structure (J:141024)
• as early as P0, endplates in the diaphragm NMJs are smaller and more spread out than in wild-type mice (J:141024)
• at P25 and P45, diaphragm neuromuscular junctions (NMJs) lack a well-defined central endplate unlike in wild-type mice (J:141024)
• at P45, the NMJs of the intercostals, diaphragm and tibialis anterior exhibit altered post-synaptic structures compared to in wild-type mice (J:141024)
• at P120, soleus NMJs exhibit few junctional folds, the distance between the post-synaptic membrane and myofibril compartment is reduced compared to in wild-type mice, mitochondria invade the subsynpatic space, subsynaptic nuclei disappear, and in many cases the sole plate is abolished (J:141024)
• however, extensor digitorum longus NMJs are normal (J:141024)
• unlike in wild-type mice, axons at the NMJs in the diaphragm exhibit sprouting and retraction bulbs and fail to form the normal Pretzel-like shaped post-synpatic structure (J:141024)
• as early as P0, endplates in the diaphragm NMJs are smaller and more spread out than in wild-type mice (J:141024)
• at P25 and P45, diaphragm neuromuscular junctions (NMJs) lack a well-defined central endplate unlike in wild-type mice (J:141024)
• at P45, the NMJs of the intercostals, diaphragm and tibialis anterior exhibit altered post-synaptic structures compared to in wild-type mice (J:141024)
• at P120, soleus NMJs exhibit few junctional folds, the distance between the post-synaptic membrane and myofibril compartment is reduced compared to in wild-type mice, mitochondria invade the subsynpatic space, subsynaptic nuclei disappear, and in many cases the sole plate is abolished (J:141024)
• however, extensor digitorum longus NMJs are normal (J:141024)
• the amplitude of endplate potentials is 76% of wild-type (J:141024)
• the amplitude of endplate potentials is 76% of wild-type (J:141024)
• the mean peak frequency of miniature end plate potential of the diaphragm is reduced compared to in wild-type diaphragms (J:141024)
• however, the amplitudes of miniature end plate potentials is normal (J:141024)
• the mean peak frequency of miniature end plate potential of the diaphragm is reduced compared to in wild-type diaphragms (J:141024)
• however, the amplitudes of miniature end plate potentials is normal (J:141024)

behavior/neurological
• in a rotarod test, the latency to fall is half of wild-type (J:141024)
• in a rotarod test, the latency to fall is half of wild-type (J:141024)
• mice exhibit a progressive loss of grip strength beginning at P21 and reaching a 30% reduction by P60 compared to wild-type mice (J:141024)
• mice exhibit a progressive loss of grip strength beginning at P21 and reaching a 30% reduction by P60 compared to wild-type mice (J:141024)
• mice develop a waddling gait (J:141024)
• mice develop a waddling gait (J:141024)

skeleton
• after 3 weeks, mice exhibit deformation of the backbone and increasing kyphosis unlike in wild-type mice (J:141024)
• at P45, mice exhibit curvatures of the spine in the thoracic and lumbar vertebrae (J:141024)
• after 3 weeks, mice exhibit deformation of the backbone and increasing kyphosis unlike in wild-type mice (J:141024)
• at P45, mice exhibit curvatures of the spine in the thoracic and lumbar vertebrae (J:141024)

growth/size/body
• by 2 months of age mice weigh 75% of wild-type (J:141024)
• by 2 months of age mice weigh 75% of wild-type (J:141024)

cellular
• axons of the nerves innervating the diaphragm exhibit overgrowth and increased branching compared to in wild-type mice (J:141024)
• axons of the nerves innervating the diaphragm exhibit overgrowth and increased branching compared to in wild-type mice (J:141024)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory