IMPC phenotypes (gene matching)
C3HeB/FeJ-Chd7Flo/IegWtsiCnbc
| Status | Available to order |
| EMMA ID | EM:05017 |
| Citation information | RRID:IMSR_EM:05017 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 | C3HeB/FeJ-Chd7Flo/IegWtsiCnbc |
| Alternative name | Flouncer |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Chd7Flo |
| Gene/Transgene symbol | Chd7 |
Information from provider
| Provider | Karen Steel |
| Provider affiliation | Wellcome Trust Sanger Institute |
| Additional owner | Helmholtz Zentrum Muenchen carried out the mutagenesis and discovered the head-bobbing. |
| Genetic information | A mutation in the splice donor site resulted in the S1864X substitution. This mutation putatively results in a protein lacking only the most C-terminal NLS, SANT, and BRK domains. |
| Phenotypic information | Flouncer hets show dominant head-bobbing and circling behaviour due to truncations of the lateral semicircular canal of the inner ear. Heterozygous mutant mice show a range of defects with reduced penetrance, such as cleft palate, choanal atresia, septal defects of the heart, haemorrhages, prenatal death, vulva and clitoral defects and keratoconjunctivitis sicca. Homozygotes die in early development. |
| Breeding history | Originated from ENU mutagenesis programme in Munich on a C3HeB/FeJ background and maintained on the same background within a closed colony or backcrossed to C3HeB/FeJ ever since. |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Omenn syndrome / Orphanet_39041
- Normosmic congenital hypogonadotropic hypogonadism / Orphanet_432
- Kallmann syndrome / Orphanet_478
- CHARGE syndrome / Orphanet_138
MGI phenotypes (allele matching)
- dry eyes / MGI
- postnatal lethality / MGI
- abnormal external female genitalia morphology / MGI
- clitoris hypoplasia / MGI
- keratoconjunctivitis sicca / MGI
- abnormal lateral semicircular canal morphology / MGI
- abnormal stationary movement / MGI
- circling / MGI
- head bobbing / MGI
- abnormal motor coordination/ balance / MGI
- impaired swimming / MGI
- impaired righting response / MGI
- abnormal placing response / MGI
- abnormal stapes footplate morphology / MGI
- increased cochlear outer hair cell number / MGI
- abnormal round window morphology / MGI
- abnormal stapes morphology / MGI
MGI phenotypes (gene matching)
- abnormal malleus morphology / MGI
- abnormal lateral semicircular canal morphology / MGI
- abnormal middle ear morphology / MGI
- thin atrioventricular cushion / MGI
- long snout / MGI
- abnormal pulmonary trunk morphology / MGI
- abnormal hindlimb morphology / MGI
- small thymus / MGI
- abnormal corpus callosum morphology / MGI
- abnormal telencephalon morphology / MGI
- abnormal parietal lobe morphology / MGI
- abnormal frontal lobe morphology / MGI
- abnormal hippocampus morphology / MGI
- absent hippocampus / MGI
- dilated lateral ventricles / MGI
- dilated third ventricle / MGI
- abnormal brain development / MGI
- abnormal telencephalon development / MGI
- abnormal sensory neuron innervation pattern / MGI
- abnormal cranial nerve morphology / MGI
- abnormal vagus nerve morphology / MGI
- abnormal trigeminal ganglion morphology / MGI
- decreased body weight / MGI
- decreased body size / MGI
- dry eyes / MGI
- abnormal maternal nurturing / MGI
- abnormal stationary movement / MGI
- circling / MGI
- bidirectional circling / MGI
- hyperactivity / MGI
- head bobbing / MGI
- abnormal motor coordination/balance / MGI
- impaired swimming / MGI
- impaired righting response / MGI
- abnormal placing response / MGI
- embryonic growth arrest / MGI
- postnatal growth retardation / MGI
- edema / MGI
- thymus hypoplasia / MGI
- increased susceptibility to otitis media / MGI
- hydroencephaly / MGI
- hemorrhage / MGI
- reduced fertility / MGI
- reduced male fertility / MGI
- reduced female fertility / MGI
- postnatal lethality / MGI
- premature death / MGI
- abnormal eye morphology / MGI
- abnormal outer ear morphology / MGI
- abnormal internal nares morphology / MGI
- abnormal semicircular canal morphology / MGI
- thin myocardium / MGI
- abnormal pharyngeal arch artery morphology / MGI
- head shaking / MGI
- small olfactory bulb / MGI
- abnormal posterior semicircular canal morphology / MGI
- abnormal inner ear canal fusion / MGI
- abnormal neural crest cell migration / MGI
- ectopic thymus / MGI
- abnormal superior semicircular canal morphology / MGI
- abnormal external female genitalia morphology / MGI
- absent lateral semicircular canal / MGI
- decreased lateral semicircular canal size / MGI
- absent posterior semicircular canal / MGI
- decreased posterior semicircular canal size / MGI
- increased cardiomyocyte apoptosis / MGI
- abnormal auditory tube / MGI
- aorta coarctation / MGI
- abnormal subclavian artery morphology / MGI
- absent olfactory bulb / MGI
- abnormal vestibulocochlear ganglion morphology / MGI
- abnormal ear development / MGI
- interrupted aortic arch / MGI
- delayed embryo turning / MGI
- abnormal crista ampullaris morphology / MGI
- abnormal embryonic neuroepithelium morphology / MGI
- abnormal stapes footplate morphology / MGI
- small otic vesicle / MGI
- increased cochlear inner hair cell number / MGI
- increased cochlear outer hair cell number / MGI
- abnormal crista ampullaris neuroepithelium morphology / MGI
- absent cochlear microphonics / MGI
- decreased cochlear nerve compound action potential / MGI
- abnormal round window morphology / MGI
- fusion of glossopharyngeal and vagus nerve / MGI
- decreased lumbar vertebrae number / MGI
- abnormal vestibular nerve morphology / MGI
- abnormal distortion product otoacoustic emission / MGI
- abnormal common crus morphology / MGI
- abnormal behavior / MGI
- abnormal neuronal precursor proliferation / MGI
- abnormal neuronal precursor cell number / MGI
- abnormal incus morphology / MGI
- abnormal stapes morphology / MGI
- coloboma / MGI
- head tossing / MGI
- hearing/vestibular/ear phenotype / MGI
- endocrine/exocrine gland phenotype / MGI
- cardiovascular system phenotype / MGI
- abnormal otic vesicle development / MGI
- abnormal cardiac outflow tract development / MGI
- abnormal digit development / MGI
- abnormal optic eminence morphology / MGI
- abnormal nasal pit morphology / MGI
- impaired hearing / MGI
- abnormal fourth pharyngeal arch artery morphology / MGI
- abnormal sixth pharyngeal arch artery morphology / MGI
- small hippocampus / MGI
- abnormal neocortex morphology / MGI
- clitoris hypoplasia / MGI
- abnormal secondary palate development / MGI
- cleft secondary palate / MGI
- abnormal olfactory lobe morphology / MGI
- decreased total body fat amount / MGI
- ventricular septal defect / MGI
- aortic arch coarctation / MGI
- increased periosteum thickness / MGI
- postnatal lethality, incomplete penetrance / MGI
- embryonic lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- embryonic lethality during organogenesis, incomplete penetrance / MGI
- lethality throughout fetal growth and development, incomplete penetrance / MGI
- preweaning lethality, incomplete penetrance / MGI
- decreased fetal cardiomyocyte proliferation / MGI
- increased cranium height / MGI
- increased or absent threshold for auditory brainstem response / MGI
- abnormal epigenetic regulation of gene expression / MGI
- decreased embryonic neuroepithelium thickness / MGI
- abnormal common carotid artery morphology / MGI
- Rathke's pouch hypoplasia / MGI
- keratoconjunctivitis sicca / MGI
- decreased palatal rugae number / MGI
- abnormal incudomalleolar joint morphology / MGI
- abnormal stapes head morphology / MGI
- small stapes obturator foramen / MGI
- abnormal stapes crus morpholgy / MGI
Literature references
- Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.;Bosman Erika A, Penn Andrew C, Ambrose John C, Kettleborough Ross, Stemple Derek L, Steel Karen P, ;2005;Human molecular genetics;14;3463-76; 16207732
- Characterization of a new mouse mutant, flouncer, with a balance defect and inner ear malformation.;Pau Henry, Hawker Kelvin, Fuchs Helmut, De Angelis Martin Hrabé, Steel Karen P, ;2004;Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology;25;707-13; 15353999