IMPC phenotypes (allele matching)
C3HeB/FeJ-Chd7Whi/IegWtsiCnbc
| Status | Available to order |
| EMMA ID | EM:04923 |
| 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