Mouse Genome Informatics
cn1
    Erbb2tm1Klee/Erbb2tm1Klee
Myl2tm1(cre)Krc/Myl2+

involves: 129S4/SvJae
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• transthoracic arotic banding results in a significant increase in mortality (70%) versus wild-type (10%)

cardiovascular system
• increase in the numbers of mitochondria and vacuoles in cardiomyoctyes, however cytoskeletal ultrastructure is unchanged
• increase in apoptosis in the ventricles
• decrease in septal thickness
• decrease in posterior ventricular wall thickness
• mutants display relatively normal function at 6 weeks of age and progressively acquire features of cardiomyopathy over a 6-month period
• exhibit ventricular enlargement of both the left and right cardiac chambers and a marked increase in heart:body weight ratio
• decrease in fractional shortening, velocity of circumferential fiber shortening and a reduction of the maximum first derivative of left ventricle pressure, indicating depressed myocardium contractility, however no differences in heart rate or left ventricle end-diastolic pressure
• reduction in left ventricle dP/dt min indicates impaired left ventricle relaxation

muscle
• increase in the numbers of mitochondria and vacuoles in cardiomyoctyes, however cytoskeletal ultrastructure is unchanged
• mutants display relatively normal function at 6 weeks of age and progressively acquire features of cardiomyopathy over a 6-month period
• exhibit ventricular enlargement of both the left and right cardiac chambers and a marked increase in heart:body weight ratio
• decrease in fractional shortening, velocity of circumferential fiber shortening and a reduction of the maximum first derivative of left ventricle pressure, indicating depressed myocardium contractility, however no differences in heart rate or left ventricle end-diastolic pressure
• reduction in left ventricle dP/dt min indicates impaired left ventricle relaxation


Mouse Genome Informatics
cn2
    Erbb2tm1Haus/Erbb2tm1Klee
Gfra1tm3Jmi/Gfra1+
Myf5tm3(cre)Sor/Myf5+

involves: 129S4/SvJae * 129S4/SvJaeSor * 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• the number of cholinergic motor neurons is decreased compared to in wild-type mice
• the number of cholinergic motor neurons is decreased compared to in wild-type mice
• mice exhibit a reduction in small Gfra1+ motor neurons compared with wild-type mice
• loss of gamma-motor neurons is intermediate to wild-type mice and Egr3tm1Jmi homozygotes
• mice exhibit a decrease in large diameter motor neurons compared with wild-type mice


Mouse Genome Informatics
cn3
    Erbb2tm1Haus/Erbb2tm1Klee
Myf5tm3(cre)Sor/Myf5+

involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
• mice show a flexed posture when inverted
• mice exhibit a wide-based, ataxic gait

nervous system
• only rudimentary muscle spindles with a single Egr3-positive myofiber are seen in tibialis anterior muscles at P3 in contrast to spindles in controls which have multiple Egr3+ intrafusal myofibers
• on P4 muscle spindles, few mutant spindles have the complex annulospiral afferent terminal seen around the equatorial region of intrafusal myofibers in control muscle; muscle spindle afferent terminal morphology is simple compared to controls
• spindle development fails to progress beyond E18 and mature spindles do not form
• in tibialis anterior (TA) muscle, muscle spindle numbers are decreased 70% from those of controls
• innervation of muscle spindles is simpler than observed in controls, but spindle afferent projection to the ventral spinal cord shows normal pattern
• monosynaptic inputs from muscle spindle afferent to motor neurons are functional but reduced in amplitude; EPSPs evoked by dorsal root stimulation or evoked by muscle nerve stimulation are reduced from those of controls by similar amounts (to about 22-26% of wild-type amplitudes)

muscle
• only rudimentary muscle spindles with a single Egr3-positive myofiber are seen in tibialis anterior muscles at P3 in contrast to spindles in controls which have multiple Egr3+ intrafusal myofibers
• on P4 muscle spindles, few mutant spindles have the complex annulospiral afferent terminal seen around the equatorial region of intrafusal myofibers in control muscle; muscle spindle afferent terminal morphology is simple compared to controls
• spindle development fails to progress beyond E18 and mature spindles do not form
• in tibialis anterior (TA) muscle, muscle spindle numbers are decreased 70% from those of controls


Mouse Genome Informatics
cn4
    Erbb2tm1Klee/Erbb2tm1Klee
Tg(Nes-cre)1Atp/0

involves: C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• death between 3 and 8 weeks of age

digestive/alimentary system
• mutants exhibit a constricted distal colon and a distended proximal colon
• mutants show an increase in the number of apoptotic cells in the myenteric layer of the colon, but no difference in apoptosis in the mucosa

growth/size
• starting at 2 weeks after birth, mutants become noticeably smaller than controls
• mutants are often less than half the size of controls at time of death
• starting at 2 weeks after birth, mutants become noticeably smaller than controls

nervous system
• loss of enteric glia in the colon by 3-4 weeks of age
• progressive postnatal loss of enteric neurons in the colon but not the intestine, such that there is a 55% decrease in enteric neurons at P24


Mouse Genome Informatics
cn5
    Erbb2tm1Klee/Erbb2tm1Klee
Tg(Mpz-cre)1Brn/0

involves: FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
normal phenotype
• mutants are indistinguishable from controls and do not show loss of enteric neurons


Mouse Genome Informatics
cn6
    Erbb2tm1Klee/Erbb2tm1Klee
Tg(Ckmm-cre)1Lrsn/0

Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cardiovascular system
• increase in the numbers of mitochondria and vacuoles in cardiomyoctyes, however cytoskeletal ultrastructure is unchanged
• increase in apoptosis in the ventricles
• decrease in septal thickness
• decrease in posterior ventricular wall thickness
• all mutants develop dilated cardiomyopathy by 6 weeks of age
• exhbiit ventricular enlargement of both the left and right cardiac chambers and a marked increase in heart:body weight ratio
• decrease in fractional shortening, velocity of circumferential fiber shortening and a reduction of the maximum first derivative of left ventricle pressure, indicating depressed myocardium contractility, however no differences in heart rate or left ventricle end-diastolic pressure
• reduction in left ventricle dP/dtmin indicates impaired left ventricle relaxation

muscle
• increase in the numbers of mitochondria and vacuoles in cardiomyoctyes, however cytoskeletal ultrastructure is unchanged
• all mutants develop dilated cardiomyopathy by 6 weeks of age
• exhbiit ventricular enlargement of both the left and right cardiac chambers and a marked increase in heart:body weight ratio
• decrease in fractional shortening, velocity of circumferential fiber shortening and a reduction of the maximum first derivative of left ventricle pressure, indicating depressed myocardium contractility, however no differences in heart rate or left ventricle end-diastolic pressure
• reduction in left ventricle dP/dtmin indicates impaired left ventricle relaxation