- abnormal malleus morphology / MGI
- deafness / MGI
- increased cochlear inner hair cell number / MGI
- increased cochlear outer hair cell number / MGI
- decreased cochlear nerve compound action potential / MGI
- conductive hearing loss / MGI
- sensorineural hearing loss / MGI
- syndromic hearing loss / MGI
- abnormal middle ear ossicle morphology / MGI
- cardiovascular system phenotype / MGI
- absent pinna reflex / MGI
- abnormal incudostapedial joint morphology / MGI
- abnormal incudomalleolar joint morphology / MGI
- abnormal incus long process morphology / MGI
- absent incus lenticular process / MGI
- abnormal stapes head morphology / MGI
- abnormal cochlea morphology / MGI
- abnormal cochlear inner hair cell morphology / MGI
- increased cochlear nerve compound action potential / MGI
- abnormal incus morphology / MGI
- abnormal stapes morphology / MGI
- impaired hearing / MGI
- small kidney / MGI
- absent incus / MGI
- neonatal lethality, complete penetrance / MGI
C3;C-Emx2Pdo/H
Status | Available to order |
EMMA ID | EM:00085 |
International strain name | C3;C-Emx2Pdo/H |
Alternative name | GENA181 |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Emx2Pdo |
Gene/Transgene symbol | Emx2 |
Information from provider
Provider | Nick Parkinson |
Provider affiliation | MRC Mammalian Genetics Unit |
Phenotypic information | These mice have a malformed ossicular chain in the middle ear which leads to conductive hearing loss. In addition, a developmental aberration in inner ear stereocilia patterning leads to an extra row of inner and outer hair cells and sensoneural deafness. |
References |
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Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
MGI phenotypes (allele matching)
MGI phenotypes (gene matching)
- abnormal malleus morphology / MGI
- abnormal cochlea morphology / MGI
- absent kidney / MGI
- abnormal kidney development / MGI
- decreased corpus callosum size / MGI
- abnormal cerebral cortex morphology / MGI
- absent dentate gyrus / MGI
- abnormal Ammon gyrus morphology / MGI
- abnormal lateral ventricle morphology / MGI
- dilated third ventricle / MGI
- deafness / MGI
- abnormal primary sex determination / MGI
- small olfactory bulb / MGI
- small kidney / MGI
- abnormal hippocampal fimbria morphology / MGI
- absent vas deferens / MGI
- absent uterus / MGI
- absent oviduct / MGI
- absent ovary / MGI
- absent seminal vesicle / MGI
- absent ureter / MGI
- abnormal pallium development / MGI
- absent incus / MGI
- abnormal cochlear inner hair cell morphology / MGI
- increased cochlear inner hair cell number / MGI
- increased cochlear outer hair cell number / MGI
- decreased cochlear nerve compound action potential / MGI
- absent epididymis / MGI
- absent efferent ductules of testis / MGI
- conductive hearing loss / MGI
- sensorineural hearing loss / MGI
- syndromic hearing loss / MGI
- increased cochlear nerve compound action potential / MGI
- impaired branching involved in ureteric bud morphogenesis / MGI
- abnormal middle ear ossicle morphology / MGI
- abnormal incus morphology / MGI
- abnormal stapes morphology / MGI
- cardiovascular system phenotype / MGI
- agonadal / MGI
- impaired hearing / MGI
- absent pinna reflex / MGI
- absent testes / MGI
- absent Mullerian ducts / MGI
- decreased anterior commissure size / MGI
- abnormal cerebral hemisphere morphology / MGI
- absent cranial vagina / MGI
- Wolffian duct degeneration / MGI
- absent internal male genitalia / MGI
- absent internal female genitalia / MGI
- abnormal metanephric mesenchyme morphology / MGI
- neonatal lethality, complete penetrance / MGI
- increased metanephric mesenchyme apoptosis / MGI
- gonadal ridge hypoplasia / MGI
- abnormal metanephric ureteric bud development / MGI
- abnormal ureteric bud tip morphology / MGI
- decreased hippocampal fornix size / MGI
- abnormal incudostapedial joint morphology / MGI
- abnormal incudomalleolar joint morphology / MGI
- abnormal incus long process morphology / MGI
- absent incus lenticular process / MGI
- abnormal stapes head morphology / MGI
Literature references
- A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse.;Nolan P M, Peters J, Strivens M, Rogers D, Hagan J, Spurr N, Gray I C, Vizor L, Brooker D, Whitehill E, Washbourne R, Hough T, Greenaway S, Hewitt M, Liu X, McCormack S, Pickford K, Selley R, Wells C, Tymowska-Lalanne Z, Roby P, Glenister P, Thornton C, Thaung C, Stevenson J A, Arkell R, Mburu P, Hardisty R, Kiernan A, Erven A, Steel K P, Voegeling S, Guenet J L, Nickols C, Sadri R, Nasse M, Isaacs A, Davies K, Browne M, Fisher E M, Martin J, Rastan S, Brown S D, Hunter J, ;2000;Nature genetics;25;440-3; 10932191
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