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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Erbb4tm1Grl
targeted mutation 1, Greg Lemke
MGI:1929607
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Erbb4tm1Grl/Erbb4tm1Grl involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:2175867
ht2
Erbb4tm1Grl/Erbb4+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:3578334
cn3
Erbb4tm1Grl/Erbb4tm1Grl
Tg(Myh6-ERBB4)HT2Gass/0
B6.Cg-Erbb4tm1Grl Tg(Myh6-ERBB4)HT2Gass MGI:5318192
cx4
Erbb4tm1Grl/Erbb4tm1Grl
Tg(Myh6-ERBB4)HT2Gass/0
involves: 129S1/Sv * 129X1/SvJ MGI:3690032


Genotype
MGI:2175867
hm1
Allelic
Composition
Erbb4tm1Grl/Erbb4tm1Grl
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb4tm1Grl mutation (1 available); any Erbb4 mutation (87 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygous embryos die between E10 and E11

cardiovascular system
• the remainder of the endocardium appears normal
• severely reduced embryonic blood flow as evidenced by an increased number of red blood cells in the heart

nervous system
• the geniculate (facial) ganglion exhibits motor axon projections to rhombomeres 1, 2, 3, 4 and 5 instead of just 4 and 5 as seen in controls
• abnormal innervation to and from the hindbrain to the crainial ganglia observed at E10.5
• the geniculate (facial) ganglion exhibits sensory neuron projections to rhombomeres 2 and 4 compared to only rhombomere 2 in controls
• the trigeminal ganglion exhibits sensory neuron projections to rhombomere 2 and 4 compared to only rhombomere 2 in controls
• nearly fused to ganglion V (trigeminal)
• nearly fused to ganglion V (trigeminal)
• nearly fused to ganglion VII/VIII (geniculate/vestibulocohlear)
• abnormal neuronal projections to the hindbrain
• abnormal neuronal projections to the hindbrain

muscle




Genotype
MGI:3578334
ht2
Allelic
Composition
Erbb4tm1Grl/Erbb4+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb4tm1Grl mutation (1 available); any Erbb4 mutation (87 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• animals are significantly more active than controls in an open field test, but less significantly than Nrg1 heterozygotes

nervous system
• impairment was seen, but not as severely as in the Nrg1 heterozygous mice
• normal acoustic startle response was observed




Genotype
MGI:5318192
cn3
Allelic
Composition
Erbb4tm1Grl/Erbb4tm1Grl
Tg(Myh6-ERBB4)HT2Gass/0
Genetic
Background
B6.Cg-Erbb4tm1Grl Tg(Myh6-ERBB4)HT2Gass
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb4tm1Grl mutation (1 available); any Erbb4 mutation (87 available)
Tg(Myh6-ERBB4)HT2Gass mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• animals show no alterations in saccharin preference (hedonic behavior) test or resident intruder test (aggression)
• mice show lower anxiety than wild-type animals in the elevated-plus maze
• animals exhibit significantly more locomotor activity than controls in open field test

nervous system
• enhanced LTP in hippocampal slices are resistant to reversal by treatment with recombinant Nrg-1beta protein
• significantly enhanced in hippocampal slices (EPSC amplitude 260% vs 180% wild-type)
• animals display deficit in PPI; reductions in PPI are more pronounced at lower prepulse sound levels than in controls
• responses are similar to PV-cre/Erbb4fl mice




Genotype
MGI:3690032
cx4
Allelic
Composition
Erbb4tm1Grl/Erbb4tm1Grl
Tg(Myh6-ERBB4)HT2Gass/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb4tm1Grl mutation (1 available); any Erbb4 mutation (87 available)
Tg(Myh6-ERBB4)HT2Gass mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer pups are born than expected

endocrine/exocrine glands
• mammary gland development often outpaces that of controls during puberty, however by 9-10 weeks of age, development of the ductal tree is similar to controls
• during pregnancy, mammary lobuloalveoli fail to differentiate correctly
• inguinal mammary glands of mutant mothers 1 day postpartum show abnormal alveolar organization; alveolar epithelial cells do not form a coherent boundary and are not columnar, lipid globules fill most of the lumens and are also trapped inside epithelial cells
• exhibit defective lactation and expression of major milk genes is 20-30% lower at day 1 of lactation
• offspring of mutant mothers, irregardless of genotype, show perinatal lethality, with 82% of pups becoming emaciated and dying between birth and P10; pups survive when fostered with controls

nervous system
N
• myelin sheaths in the brain are of normal thickness
• cerebellum exhibits increased numbers of large interneurons in the granule cell layer, however neuromuscular junctions develop normally
• at E17.5, ectopic nerve projections persist and result in an ectopic cranial nerve between the geniculate and trigeminal ganglia

reproductive system
• during pregnancy, mammary lobuloalveoli fail to differentiate correctly

cardiovascular system
N
• exhibit rescue of the cardiac defects observed in homozygous Erbb4 mutants

craniofacial
N
• observe no obvious defects in cranial skeleton or inner ear, lower jaw or tooth development

embryo
• exhibit aberrant migration of a subpopulation of rhombomere 4 (r4) neural crest cells into r3-adjacent cranial mesenchyme
• by E11, show aberrantly projecting axons extending through r3-adjacent mesenchyme, connecting the geniculate/cochleovestibular ganglion complex with the trigeminal ganglion

integument
• mammary gland development often outpaces that of controls during puberty, however by 9-10 weeks of age, development of the ductal tree is similar to controls
• during pregnancy, mammary lobuloalveoli fail to differentiate correctly
• inguinal mammary glands of mutant mothers 1 day postpartum show abnormal alveolar organization; alveolar epithelial cells do not form a coherent boundary and are not columnar, lipid globules fill most of the lumens and are also trapped inside epithelial cells
• exhibit defective lactation and expression of major milk genes is 20-30% lower at day 1 of lactation
• offspring of mutant mothers, irregardless of genotype, show perinatal lethality, with 82% of pups becoming emaciated and dying between birth and P10; pups survive when fostered with controls

respiratory system
• mild signs of chronic lung inflammation, such as increased granulocyte number and reduced surfactant protein D expression, are observed
• at 11-14 weeks of age, the volume density and thickness of alveolar septa are increased to ~120% of those in heterozygous control animals
• the number of alveoli is significantly reduced by 20% relative to that in heterozygous control animals, indicating alveolar simplification
• at 11-14 weeks of age, the volume density of alveolar ductal space is reduced to 91% of that in heterozygous control animals
• at 11-14 weeks of age, the thickness of alveolar septa is increased to ~120% of those in heterozygous control animals
• at 11-14 weeks of age, tidal midexpiratory flow is significantly reduced relative to that in heterozygous controls
• at 11-14 weeks of age, respiratory frequency (breaths/min) is significantly reduced relative to that in heterozygous controls
• at 11-14 weeks of age, airway hyperresponsiveness is observed in response to methacholine (MCh) provocation at doses of 0.125, 0.5, and 1.0 ug
• however, no significant differences are detected at MCh doses of 0.25 ug and above 1 ug
• a minor downregulation of surfactant protein D expression is observed

immune system
• at 11-14 weeks of age, the number of granulocytes in lung is significantly increased relative to that in heterozygous control animals
• mild signs of chronic lung inflammation, such as increased granulocyte number and reduced surfactant protein D expression, are observed

hematopoietic system
• at 11-14 weeks of age, the number of granulocytes in lung is significantly increased relative to that in heterozygous control animals

cellular
• exhibit aberrant migration of a subpopulation of rhombomere 4 (r4) neural crest cells into r3-adjacent cranial mesenchyme
• by E11, show aberrantly projecting axons extending through r3-adjacent mesenchyme, connecting the geniculate/cochleovestibular ganglion complex with the trigeminal ganglion





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last database update
10/22/2024
MGI 6.24
The Jackson Laboratory