IMPC phenotypes (gene matching)
- preweaning lethality, complete penetrance / IMPC
B6.129X1(Cg)-Erbb2tm1Mll/Cnbc
| Status | Available to order |
| EMMA ID | EM:08023 |
| Citation information | RRID:IMSR_EM:08023 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | B6.129X1(Cg)-Erbb2tm1Mll/Cnbc |
| Alternative name | Erbb2 |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Erbb2tm1Mll |
| Gene/Transgene symbol | Erbb2 |
Information from provider
| Provider | Anna Guma |
| Provider affiliation | Dept. Biochemistry and Molecular Biology, University of Barcelona |
| Additional owner | Ullrich Mueller, The Scripps Research Institute, La Jolla, CA, U.S.A. |
| Genetic information | v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian); targeted mutation 1, Ulrich Muller. LoxP sites flanking exon 1 were introduced via homologous recombination. |
| Phenotypic information | Homozygous:Mice lacking Erbb2 die during development because of heart malformation. This conditional mutation does not confer any phenotype. Mice that are homozygous for the Erbb2/flox allele deposited here are indistinguishable from wild-type mice.Heterozygous:Mice that are heterozygous for the Erbb2/flox allele deposited here are indistinguishable from wild-type mice. |
| Breeding history | Mixed original background, possibly involving 129S1/Sv, 129X1/SvJ, and C57BL/6. Eventually brought to C57BL/6 where it is currently maintained. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
| Animals used for archiving | homozygous C57BL/6J males, wild-type C57BL/6J females |
| Stage of embryos | 2-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Hirschsprung disease / Orphanet_388
MGI phenotypes (gene matching)
- enlarged heart / MGI
- thin ventricular wall / MGI
- absent myocardial trabeculae / MGI
- absent trabeculae carneae / MGI
- decreased atrioventricular cushion size / MGI
- abnormal motor neuron innervation pattern / MGI
- abnormal oligodendrocyte morphology / MGI
- abnormal dorsal root ganglion morphology / MGI
- abnormal sensory neuron morphology / MGI
- abnormal sensory neuron innervation pattern / MGI
- absent primary muscle spindle / MGI
- partial loss of secondary muscle spindle / MGI
- abnormal sympathetic ganglion morphology / MGI
- abnormal cranial nerve morphology / MGI
- abnormal trigeminal nerve morphology / MGI
- abnormal glossopharyngeal nerve morphology / MGI
- abnormal vagus nerve morphology / MGI
- abnormal hypoglossal nerve morphology / MGI
- abnormal phrenic nerve morphology / MGI
- defasiculated phrenic nerve / MGI
- abnormal cranial ganglia morphology / MGI
- abnormal geniculate ganglion morphology / MGI
- abnormal petrosal ganglion morphology / MGI
- abnormal trigeminal ganglion morphology / MGI
- small superior vagus ganglion / MGI
- cyanosis / MGI
- poor circulation / MGI
- irregular heartbeat / MGI
- absent vitelline blood vessels / MGI
- hemorrhage / MGI
- respiratory failure / MGI
- prenatal lethality / MGI
- abnormal blood circulation / MGI
- no abnormal phenotype detected / MGI
- abnormal myocardial trabeculae morphology / MGI
- abnormal cochlear ganglion morphology / MGI
- abnormal neural crest cell migration / MGI
- abnormal heart atrium morphology / MGI
- dilated heart atrium / MGI
- abnormal vitelline vasculature morphology / MGI
- kinked neural tube / MGI
- nervous system phenotype / MGI
- abnormal ventral spinal root morphology / MGI
- decreased Schwann cell precursor number / MGI
- decreased neuronal precursor cell number / MGI
- cardiovascular system phenotype / MGI
- reproductive system phenotype / MGI
- abnormal paravertebral ganglion morphology / MGI
- abnormal atrium myocardium morphology / MGI
- atrioventricular block / MGI
- perinatal lethality, complete penetrance / MGI
- embryonic lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- abnormal phrenic nerve innervation pattern to diaphragm / MGI
Literature references
- Erbb2 regulates neuromuscular synapse formation and is essential for muscle spindle development.;Leu Marco, Bellmunt Elena, Schwander Martin, Fariñas Isabel, Brenner Hans Rudolf, Müller Ulrich, ;2003;Development (Cambridge, England);130;2291-301; 12702645
- Synapses form in skeletal muscles lacking neuregulin receptors.;Escher P, Lacazette E, Courtet M, Blindenbacher A, Landmann L, Bezakova G, Lloyd K C, Mueller U, Brenner H R, ;2005;Science (New York, N.Y.);308;1920-3; 15976301