IMPC phenotypes (gene matching)
B6.129P2(FVB)-Fgf3tm1Sng/Cnbc
| Status | Available to order |
| EMMA ID | EM:04387 |
| 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, wild-type C57BL/6J |
| 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