IMPC phenotypes (allele matching)
C3HeB/FeJ-Chd7Whi/IegWtsiCnbc
| Status | Available to order |
| EMMA ID | EM:04923 |
| Citation information | RRID:IMSR_EM:04923 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-Chd7Whi/IegWtsiCnbc |
| Alternative name | Whirligig, Chd7 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Chd7Whi |
| Gene/Transgene symbol | Chd7 |
Information from provider
| Provider | Karen Steel |
| Provider affiliation | Wellcome Trust Sanger Institute |
| Additional owner | Prof. M. Hrabé de Angelis, Helmholtz Zentrum München, Neuherberg, Germany |
| Genetic information | ENU-induced mutation at proximal chromosome 4. |
| Phenotypic information | Circling, head-bobbing and hyperactive mutant, maps to proximal chromosome 4. Phenotype indistinguishable from Chd7 mutations. |
| Breeding history | Originated from ENU mutagenesis programme in Munich, Helmholtz Centrum, on a C3HeB/FeJ background and bred 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 | no |
Information from EMMA
| Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
Disease and phenotype information
MGI allele-associated human disease models
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)
- circling / MGI
- hyperactivity / MGI
- head bobbing / MGI
- abnormal superior semicircular canal morphology / MGI
- absent lateral semicircular canal / MGI
- decreased lateral semicircular canal size / MGI
- increased cochlear inner hair cell number / MGI
- increased cochlear outer hair cell number / MGI
- abnormal round window morphology / MGI
- abnormal stapes morphology / MGI
- hearing/vestibular/ear phenotype / MGI
- decreased body weight / MGI
- dry eyes / MGI
- edema / MGI
- hemorrhage / MGI
- postnatal lethality / MGI
- abnormal outer ear morphology / MGI
- abnormal internal nares morphology / MGI
- head shaking / MGI
- abnormal external female genitalia morphology / MGI
- abnormal digit development / MGI
- clitoris hypoplasia / MGI
- abnormal secondary palate development / MGI
- cleft secondary palate / MGI
- decreased total body fat amount / MGI
- ventricular septal defect / MGI
- keratoconjunctivitis sicca / MGI
- decreased palatal rugae number / 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
- Two new mouse mutants with vestibular defects that map to the highly mutable locus on chromosome 4.;Hawker Kelvin, Fuchs Helmut, Angelis Martin Hrabéde, Steel Karen P, ;2005;International journal of audiology;44;171-7; 15916118
- 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
- Study of smell and reproductive organs in a mouse model for CHARGE syndrome.;Bergman Jorieke E H, Bosman Erika A, van Ravenswaaij-Arts Conny M A, Steel Karen P, ;2010;European journal of human genetics : EJHG;18;171-7; 19809474
- Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice.;Randall Victoria, McCue Karen, Roberts Catherine, Kyriakopoulou Vanessa, Beddow Sarah, Barrett Angela N, Vitelli Francesca, Prescott Katrina, Shaw-Smith Charles, Devriendt Koen, Bosman Erika, Steffes Georg, Steel Karen P, Simrick Subreena, Basson M Albert, Illingworth Elizabeth, Scambler Peter J, ;2009;The Journal of clinical investigation;119;3301-10; 19855134
- CHD7 promotes proliferation of neural stem cells mediated by MIF.;Ohta Shigeki, Yaguchi Tomonori, Okuno Hironobu, Chneiweiss Hervé, Kawakami Yutaka, Okano Hideyuki, ;2016;Molecular brain;9;96; 27955690
- Characterization of Two Mouse Chd7 Heterozygous Loss-of-Function Models Shows Dysgenesis of the Corpus Callosum and Previously Unreported Features of CHARGE Syndrome.;Collins Stephan C, Vancollie Valerie E, Mikhaleva Anna, Wagner Christel, Balz Rebecca, Lelliott Christopher J, Yalcin Binnaz, ;2022;International journal of molecular sciences;23;; 36232804