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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Erbb2tm1Klee
targeted mutation 1, Kuo-Fen Lee
MGI:2387154
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Erbb2tm1Klee/Erbb2tm1Klee
Myl2tm1(cre)Krc/Myl2+
involves: 129S4/SvJae MGI:3621642
cn2
Erbb2tm1Haus/Erbb2tm1Klee
Gfra1tm3Jmi/Gfra1+
Myf5tm3(cre)Sor/Myf5+
involves: 129S4/SvJae * 129S4/SvJaeSor * 129X1/SvJ MGI:4456175
cn3
Erbb2tm1Haus/Erbb2tm1Klee
Myf5tm3(cre)Sor/Myf5+
involves: 129S4/SvJae * C57BL/6 MGI:3843807
cn4
Erbb2tm1Klee/Erbb2tm1Klee
Tg(Nes-cre)1Atp/0
involves: C57BL/6 * FVB/N MGI:2654632
cn5
Erbb2tm1Klee/Erbb2tm1Klee
Tg(Mpz-cre)1Brn/0
involves: FVB/N MGI:3845119
cn6
Erbb2tm1Klee/Erbb2tm1Klee
Tg(Ckmm-cre)1Lrsn/0
Not Specified MGI:3621643


Genotype
MGI:3621642
cn1
Allelic
Composition
Erbb2tm1Klee/Erbb2tm1Klee
Myl2tm1(cre)Krc/Myl2+
Genetic
Background
involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb2tm1Klee mutation (0 available); any Erbb2 mutation (59 available)
Myl2tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)
phenotype observed in females
phenotype observed in males
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 LV septal thickness
• decrease in LV posterior 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




Genotype
MGI:4456175
cn2
Allelic
Composition
Erbb2tm1Haus/Erbb2tm1Klee
Gfra1tm3Jmi/Gfra1+
Myf5tm3(cre)Sor/Myf5+
Genetic
Background
involves: 129S4/SvJae * 129S4/SvJaeSor * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb2tm1Haus mutation (0 available); any Erbb2 mutation (59 available)
Erbb2tm1Klee mutation (0 available); any Erbb2 mutation (59 available)
Gfra1tm3Jmi mutation (0 available); any Gfra1 mutation (31 available)
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
phenotype observed in females
phenotype observed in males
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




Genotype
MGI:3843807
cn3
Allelic
Composition
Erbb2tm1Haus/Erbb2tm1Klee
Myf5tm3(cre)Sor/Myf5+
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb2tm1Haus mutation (0 available); any Erbb2 mutation (59 available)
Erbb2tm1Klee mutation (0 available); any Erbb2 mutation (59 available)
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
phenotype observed in females
phenotype observed in males
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




Genotype
MGI:2654632
cn4
Allelic
Composition
Erbb2tm1Klee/Erbb2tm1Klee
Tg(Nes-cre)1Atp/0
Genetic
Background
involves: C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb2tm1Klee mutation (0 available); any Erbb2 mutation (59 available)
Tg(Nes-cre)1Atp mutation (0 available)
phenotype observed in females
phenotype observed in males
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/body
• 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 Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Hirschsprung's disease DOID:10487 OMIM:600156
OMIM:606874
OMIM:606875
OMIM:608462
OMIM:611644
J:81239




Genotype
MGI:3845119
cn5
Allelic
Composition
Erbb2tm1Klee/Erbb2tm1Klee
Tg(Mpz-cre)1Brn/0
Genetic
Background
involves: FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb2tm1Klee mutation (0 available); any Erbb2 mutation (59 available)
Tg(Mpz-cre)1Brn mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mutants are indistinguishable from controls and do not show loss of enteric neurons




Genotype
MGI:3621643
cn6
Allelic
Composition
Erbb2tm1Klee/Erbb2tm1Klee
Tg(Ckmm-cre)1Lrsn/0
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb2tm1Klee mutation (0 available); any Erbb2 mutation (59 available)
Tg(Ckmm-cre)1Lrsn mutation (0 available)
phenotype observed in females
phenotype observed in males
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 LV septal thickness
• decrease in LV 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





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory