IMPC phenotypes (gene matching)
B6.129P2(FVB)-Fgf3tm1Sng/Cnbc
| Status | Available to order |
| EMMA ID | EM:04387 |
| Citation information | RRID:IMSR_EM:04387 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 | B6.129P2(FVB)-Fgf3tm1Sng/Cnbc |
| Alternative name | Fgf3ko |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Fgf3tm1Sng |
| Gene/Transgene symbol | Fgf3 |
Information from provider
| Provider | Thomas Schimmang |
| Provider affiliation | IBGM |
| Genetic information | Targeting construct from 129. The coding region of Fgf3 is deleted. |
| Phenotypic information | Homozygous mutants are viable and fertile. Tail defect with 100% penetrance. Inner ear defect with variable penetrance and expressivity. |
| Breeding history | Backcrossed on C57BL/6 for 10 generations. |
| 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 | 8-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Deafness with labyrinthine aplasia, microtia, and microdontia / Orphanet_90024
MGI phenotypes (gene matching)
- abnormal inner ear morphology / MGI
- abnormal cochlea morphology / MGI
- abnormal inner ear vestibule morphology / MGI
- abnormal membranous labyrinth morphology / MGI
- absent endolymphatic duct / MGI
- kinked tail / MGI
- thick tail / MGI
- short tail / MGI
- abnormal cranial ganglia morphology / MGI
- circling / MGI
- hyperactivity / MGI
- decreased startle reflex / MGI
- impaired righting response / MGI
- decreased caudal vertebrae number / MGI
- abnormal embryo development / MGI
- abnormal somite development / MGI
- decreased embryo size / MGI
- postnatal lethality / MGI
- abnormal ear morphology / MGI
- abnormal tail morphology / MGI
- abnormal neural tube morphology / MGI
- no abnormal phenotype detected / MGI
- abnormal semicircular canal morphology / MGI
- abnormal caudal vertebrae morphology / MGI
- no phenotypic analysis / MGI
- curly tail / MGI
- decreased cochlear coiling / MGI
- absent posterior semicircular canal / MGI
- absent superior semicircular canal / MGI
- abnormal scala vestibuli morphology / MGI
- abnormal scala media morphology / MGI
- cochlear ganglion hypoplasia / MGI
- abnormal vestibulocochlear ganglion morphology / MGI
- embryonic growth retardation / MGI
- small otic vesicle / MGI
- dilated cochlea / MGI
- caudal vertebral fusion / MGI
- absent common crus / MGI
- head tilt / MGI
- hearing/vestibular/ear phenotype / MGI
- behavior/neurological phenotype / MGI
- reproductive system phenotype / MGI
- absent endolymphatic sac / MGI
- abnormal otic vesicle development / MGI
- abnormal vestibular saccule morphology / MGI
- abnormal utricle morphology / MGI
- absent pinna reflex / MGI
- short endolymphatic duct / MGI
- dilated scala media / MGI
- mortality/aging / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, incomplete penetrance / MGI
- increased or absent threshold for auditory brainstem response / MGI
Literature references
- Requirements for FGF3 and FGF10 during inner ear formation.;Alvarez Yolanda, Alonso Maria Teresa, Vendrell Victor, Zelarayan Laura Cecilia, Chamero Pablo, Theil Thomas, Bösl Michael R, Kato Shigeaki, Maconochie Mark, Riethmacher Dieter, Schimmang Thomas, ;2003;Development (Cambridge, England);130;6329-38; 14623822