Phenotypes associated with this allele
nervous system
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• seven days after quadriceps femoris nerve crush, axon outgrowth from lesion site is significantly less than in wild-type
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• sciatic functional index (SFI), following sciatic nerve crush, is worse in mutant as compared to wild-type
• initial decline is similar, but recovery is slower and does not reach initial state of function after 35 days
• toe spreading is worse after crush as compared to wild-type
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• compound muscle action potential (CMAP) is reduced following sciatic nerve crush and does not fully recover
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• nerve conduction velocity (NCV) is reduced following sciatic nerve crush as compared to wild-type, but recovers by 35 days
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• regeneration of motor fibers is delayed at 14 days and 28 days following quadriceps femoris nerve crush as compared to wild-type
• reduced number of motor fibers at 14 days and 28 days following quadriceps femoris nerve crush as compared to wild-type
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cellular
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• seven days after quadriceps femoris nerve crush, axon outgrowth from lesion site is significantly less than in wild-type
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dsptm1Efu mutation
(1 available);
any
Dsp mutation
(136 available)
Tg(KRT14-cre)1Efu mutation
(0 available)
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cellular
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• mice have severe intracellular adhesion defects
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integument
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• large sections of the epidermis are missing and visible peeling occurs
(J:67797)
• after mechanical stress, newborn mice show epithelial peeling
(J:73084)
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• at E18.5, intracellular separation is pronounced
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• cornified envelopes are bubble-bath like
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• at E18.5, intracellular separation is pronounced
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mortality/aging
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• high doses of epinephrine in combination with exercise can induce sudden cardiac death in mutants that is not seen in controls
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• susceptibility to postnatal lethality from 1 month of age onwards, with 50% dying within 2 months of age and 100% mortality by 5 months of age
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cardiovascular system
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• fatty deposition is seen in the subepicardium, mid-wall region of hearts and in the left ventricle
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• in severely affected regions, hearts show some loss of muscle architecture
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• rupture of desmosomes and loss of myocyte-myocyte adhesion between neighboring cells as indicated by intercellular gaps in hearts
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• defects in intercalated disc integrity as early as 2.5 weeks of age
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• pronounced pockets of fat deposition are seen within the subepicardium of hearts from 6 week old mice
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• 4 week old mice exhibit enlarged hearts
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• right and left ventricular chamber dilation in 4 week old mice which is more pronounced in the right ventricle
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• extensive fibrosis in the heart, seen in the right and left ventricles and in the septum, but not in the atria
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• mice exhibit increased end-diastolic and end-systolic volumes, reduced ejection fraction, and reduced wall thickness in both the right and left ventricle indicating biventricular dilation and depressed systolic function
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• mice exhibit ventricular arrhythmias that are exacerbated with exercise and catecholamine stimulation
• however, mice exhibit normal heart rate
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• spontaneous ectopic premature ventricular contractions
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• epicardial pattern of action potential propagation following ventricular epicardial pacing shows that mutant hearts display pronounced conduction breaks in wavefront propagation within the epicardium
• analysis of action potential propagation in hearts shows prolonged activation time, action potential durations, and action potential dispersion
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• hearts exhibit delayed conduction in the right ventricle following atrial pacing, consistent with right bundle branch block
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• increase in QRS intervals, suggestive of ventricular depolarization delay
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• mice exhibit a severe form of ventricular cardiomyopathy similar to a biventricular form of arrhythmogenic right ventricular cardiomyopathy
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cellular
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• hearts show an increase in TUNEL+ cells in the cardiac mid-wall and in the subepicardial region of the heart, indicating increased apoptosis
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muscle
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• in severely affected regions, hearts show some loss of muscle architecture
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• rupture of desmosomes and loss of myocyte-myocyte adhesion between neighboring cells as indicated by intercellular gaps in hearts
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• defects in intercalated disc integrity as early as 2.5 weeks of age
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• mice exhibit increased end-diastolic and end-systolic volumes, reduced ejection fraction, and reduced wall thickness in both the right and left ventricle indicating biventricular dilation and depressed systolic function
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• mice exhibit a severe form of ventricular cardiomyopathy similar to a biventricular form of arrhythmogenic right ventricular cardiomyopathy
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• loss or thickening of Z-lines in severely affected regions of the heart
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growth/size/body
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• 4 week old mice exhibit enlarged hearts
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Analysis Tools