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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Erbb2tm1Cbm
targeted mutation 1, Carmen Birchmeier
MGI:1929071
Summary 7 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Erbb2tm1Cbm/Erbb2tm1Cbm involves: 129P2/OlaHsd * C57BL/6 MGI:2175861
ht2
 		Erbb2tm1Cbm/Erbb2+ involves: 129P2/OlaHsd MGI:3530783
ht3
 		Erbb2tm1Cbm/Erbb2tm2.1Cbm involves: 129P2/OlaHsd * C57BL/6 MGI:2177310
cn4
 		Egr2tm2(cre)Pch/Egr2+
Erbb2tm1Cbm/Erbb2tm2Cbm 		involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 MGI:2177311
cn5
 		Erbb2tm1Cbm/Erbb2tm2Cbm
Myl2tm1(cre)Krc/Myl2+ 		involves: 129P2/OlaHsd * 129S4/SvJae MGI:3621567
cx6
 		Erbb2tm1Cbm/Erbb2+
Nrg1tm1Cbm/Nrg1+ 		involves: 129P2/OlaHsd MGI:3530776
cx7
 		Erbb2tm1Cbm/Erbb2+
Erbb3tm2Cbm/Erbb3+
Nrg1tm1Cbm/Nrg1+ 		involves: 129P2/OlaHsd MGI:3530779


Genotype
MGI:2175861
hm1
Allelic
Composition		 Erbb2tm1Cbm/Erbb2tm1Cbm
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb2tm1Cbm mutation (0 available); any Erbb2 mutation (61 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system

nervous system
decreased Schwann cell precursor number ( J:48515 )
• numbers of early Schwann cell precursors that accompany projections of sensory and motor neurons are reduced at E10.5
decreased neuronal precursor cell number ( J:48515 )
• severe reduction of neuronal precursors present in the primary sympathetic ganglion chain
• reduction of precursors of sympathetic neurons
abnormal cranial ganglia morphology ( J:48515 )
• abnormal appearance of cranial ganglia

muscle

embryo
abnormal neural crest cell migration ( J:48515 )
• neural crest cells are scarce at positions ventral of the neural tube and lateral of the dorsal aorta and accumulate at dorsal positions

cellular
abnormal neural crest cell migration ( J:48515 )
• neural crest cells are scarce at positions ventral of the neural tube and lateral of the dorsal aorta and accumulate at dorsal positions




Genotype
MGI:3530783
ht2
Allelic
Composition		 Erbb2tm1Cbm/Erbb2+
Genetic
Background		 involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb2tm1Cbm mutation (0 available); any Erbb2 mutation (61 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
nervous system phenotype ( J:90038 )
N
• no decrease in myelin thickness was observed on the sciatic nerve




Genotype
MGI:2177310
ht3
Allelic
Composition		 Erbb2tm1Cbm/Erbb2tm2.1Cbm
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb2tm1Cbm mutation (0 available); any Erbb2 mutation (61 available)
Erbb2tm2.1Cbm mutation (0 available); any Erbb2 mutation (61 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system

nervous system
abnormal sympathetic ganglion morphology ( J:75421 )
• abnormal cranial sensory ganglia

muscle




Genotype
MGI:2177311
cn4
Allelic
Composition		 Egr2tm2(cre)Pch/Egr2+
Erbb2tm1Cbm/Erbb2tm2Cbm
Genetic
Background		 involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Egr2tm2(cre)Pch mutation (2 available); any Egr2 mutation (33 available)
Erbb2tm1Cbm mutation (0 available); any Erbb2 mutation (61 available)
Erbb2tm2Cbm mutation (0 available); any Erbb2 mutation (61 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:75421 )
• 5 of 37 die within 6 months

behavior/neurological
abnormal locomotor activation ( J:75421 )
• difficulties in hindlimb movement
abnormal gait ( J:75421 )
• gait abnormalities

growth/size/body
cachexia ( J:75421 )
• display wasting associated with weight loss and premature death

limbs/digits/tail
kinked tail ( J:75421 )
• kinked or serpentine tails

nervous system
decreased Schwann cell number ( J:75421 )
• at P3.5, see a 10-fold reduction in ventral and a 5-fold reduction in dorsal roots, with this reduction still apparent at P15, however by 6 months of age, cell numbers are similar to those in controls, however myelin sheaths formed are thin
abnormal myelin sheath morphology ( J:75421 )
• reduction in thickness of the myelin sheath of sciatic nerves at P15 that persists at 6 and 14 months of age
• thin myelin is due to the presence of fewer wraps of myelin around the axon
abnormal dorsal spinal root morphology ( J:75421 )
• dorsal roots display a severe decrease of Schwann cells in all mutants at P3.5 and P15
abnormal sciatic nerve morphology ( J:75421 )
• sciatic nerves at P15 are translucent and thin
abnormal ventral spinal root morphology ( J:75421 )
• ventral roots display a severe decrease of Schwann cells in all mutants at P3.5 and P15
• about 20% loss of axons in the L5 ventral root
abnormal myelination ( J:75421 )
• hypomyelination in sciatic, sural, saphenous nerves, nerves innervating lower leg muscles, and the dorsal spinal roots and absent myelin in ventral spinal roots
• occasionally see large-caliber axons lacking myelin that are still surrounded by a Schwann cell basal lamina in the sciatic nerve




Genotype
MGI:3621567
cn5
Allelic
Composition		 Erbb2tm1Cbm/Erbb2tm2Cbm
Myl2tm1(cre)Krc/Myl2+
Genetic
Background		 involves: 129P2/OlaHsd * 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb2tm1Cbm mutation (0 available); any Erbb2 mutation (61 available)
Erbb2tm2Cbm mutation (0 available); any Erbb2 mutation (61 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
premature death ( J:77347 )
• 27% die before reaching 6 months of age and 20% die during echochardiographic or ECG examination
postnatal lethality, incomplete penetrance ( J:77347 )
• 16% die within the first 2 weeks, the rest reach adulthood

cardiovascular system
abnormal myocardial fiber morphology ( J:77347 )
• adults and 3 month old mice exhibit myofiber hypertrophy
• frequently observe enlarged cardiomyocyte nuclei with abnormal morphology
cardiac hypertrophy ( J:77347 )
• heart-to-body weight ratios of adults are increased by 26%, indicative of hypertrophy
increased heart ventricle size ( J:77347 )
• adults exhibit enlarged ventricular chambers
thin ventricular wall ( J:77347 )
• seen in adults
dilated cardiomyopathy ( J:77347 )
• progressive malfunction of the heart
decreased heart ventricle muscle contractility ( J:77347 )
• at 3 months of age, ventricular diameter is increased and fractional shortening is impaired
• hearts do not compensate after aortic banding but display a further decrease in fractional shortening
decreased heart left ventricle muscle contractility ( J:77347 )
• at 1 month of age, see dilatation and loss of left ventricle contractility
prolonged QT interval ( J:77347 )
• significantly lengthened QTc interval caused by a slowed ventricular repolarization

muscle
abnormal myocardial fiber morphology ( J:77347 )
• adults and 3 month old mice exhibit myofiber hypertrophy
• frequently observe enlarged cardiomyocyte nuclei with abnormal morphology
dilated cardiomyopathy ( J:77347 )
• progressive malfunction of the heart
decreased heart ventricle muscle contractility ( J:77347 )
• at 3 months of age, ventricular diameter is increased and fractional shortening is impaired
• hearts do not compensate after aortic banding but display a further decrease in fractional shortening
decreased heart left ventricle muscle contractility ( J:77347 )
• at 1 month of age, see dilatation and loss of left ventricle contractility

growth/size/body
cardiac hypertrophy ( J:77347 )
• heart-to-body weight ratios of adults are increased by 26%, indicative of hypertrophy

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
dilated cardiomyopathy DOID:12930 OMIM:PS115200
 J:77347




Genotype
MGI:3530776
cx6
Allelic
Composition		 Erbb2tm1Cbm/Erbb2+
Nrg1tm1Cbm/Nrg1+
Genetic
Background		 involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb2tm1Cbm mutation (0 available); any Erbb2 mutation (61 available)
Nrg1tm1Cbm mutation (0 available); any Nrg1 mutation (54 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal myelination ( J:90038 )
• hypomyelination; thin myelin sheath of sciatic nerve observed at P10 and at 6 months of age
abnormal nerve conduction ( J:90038 )
• reduced nerve conduction velocity measured in the sciatic nerve, but with normal current amplitudes and muscle compound action potentials




Genotype
MGI:3530779
cx7
Allelic
Composition		 Erbb2tm1Cbm/Erbb2+
Erbb3tm2Cbm/Erbb3+
Nrg1tm1Cbm/Nrg1+
Genetic
Background		 involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb2tm1Cbm mutation (0 available); any Erbb2 mutation (61 available)
Erbb3tm2Cbm mutation (0 available); any Erbb3 mutation (48 available)
Nrg1tm1Cbm mutation (0 available); any Nrg1 mutation (54 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal myelination ( J:90038 )
• hypomyelination; thin myelin sheath of sciatic nerve observed at P10 and at 6 months of age
abnormal nerve conduction ( J:90038 )
• reduced nerve conduction velocity measured in the sciatic nerve, but with normal current amplitudes and muscle compound action potentials




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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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory