- enlarged heart / IMPC
- abnormal body wall morphology / IMPC
- hyperactivity / IMPC
- increased heart weight / IMPC
- preweaning lethality, complete penetrance / IMPC
- abnormal retina vasculature morphology / IMPC
- increased startle reflex / IMPC
- cleft palate / IMPC
- abnormal embryo size / IMPC
- cataract / IMPC
C57BL/6J-Fgf9Aca12/Ieg
Status | Available to order |
EMMA ID | EM:05137 |
International strain name | C57BL/6J-Fgf9Aca12/Ieg |
Alternative name | Aca12 |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Fgf9Aca12 |
Gene/Transgene symbol | Fgf9 |
Information from provider
Provider | Oliver Puk |
Provider affiliation | Institut fuer Entwicklungsgenetik, AG Graw, Helmholtz Zentrum Muenchen |
Genetic information | ENU induced Fgf9 Y162C mutation. Disclaimer - Special restrictions: 1) Mutant development was phenotype driven. Although for some mutant lines, linkage data and the molecular characterization of the causative mutation has been published, EMMA has not genotyped the strains and can not provide genotyping protocols. 2) Some lines showed low penetrance of the phenotype. 3) Only sperm available. Rederivation service can not be offered. 4) EMMA quality control standards may not apply for these strains. 5) EMMA has not verified the breeding performance and the genetic background of the strains. The genotype/phenotype of the mice is not confirmed by INFRAFRONTIER/EMMA. We strongly recommend that the recipient confirms genotype/phenotype upon receipt. |
Phenotypic information | Aca12 is characterized by microphthalmia and microphakia. |
Breeding history | Incross, 10 generations. |
References |
|
Homozygous fertile | yes |
Homozygous viable | yes |
Homozygous matings required | no |
Immunocompromised | no |
Information from EMMA
Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
Animals used for archiving | homozygous C57BL/6J, wild-type C57BL/6J |
Stage of embryos | 2-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Multiple synostoses syndrome / Orphanet_3237
IMPC phenotypes (gene matching)
MGI phenotypes (gene matching)
- abnormal tympanic ring morphology / MGI
- abnormal cochlea morphology / MGI
- delayed bone ossification / MGI
- short premaxilla / MGI
- cleft palate / MGI
- abnormal tooth development / MGI
- abnormal sternum morphology / MGI
- abnormal cartilage development / MGI
- abnormal heart development / MGI
- abnormal cecum morphology / MGI
- abnormal small intestine morphology / MGI
- short limbs / MGI
- abnormal radius morphology / MGI
- synostosis / MGI
- kinked tail / MGI
- short tail / MGI
- abnormal testis morphology / MGI
- abnormal lung morphology / MGI
- pulmonary hypoplasia / MGI
- ocular hypertelorism / MGI
- cataract / MGI
- small lens / MGI
- abnormal suckling behavior / MGI
- cyanosis / MGI
- abnormal digestive system physiology / MGI
- postnatal growth retardation / MGI
- testis hypoplasia / MGI
- respiratory failure / MGI
- respiratory distress / MGI
- hypopnea / MGI
- postnatal lethality / MGI
- abnormal vision / MGI
- no abnormal phenotype detected / MGI
- abnormal primary sex determination / MGI
- heart hypoplasia / MGI
- exophthalmos / MGI
- dilated heart left ventricle / MGI
- dilated heart right ventricle / MGI
- short tibia / MGI
- short fibula / MGI
- abnormal joint morphology / MGI
- primary sex reversal / MGI
- ovotestis / MGI
- curly tail / MGI
- short femur / MGI
- dilated heart atrium / MGI
- fused joints / MGI
- calcified joint / MGI
- abnormal voluntary movement / MGI
- abnormal fetal cardiomyocyte proliferation / MGI
- small lung / MGI
- pallor / MGI
- abnormal long bone morphology / MGI
- abnormal Sertoli cell development / MGI
- abnormal intervertebral disk morphology / MGI
- short sternum / MGI
- short humerus / MGI
- short radius / MGI
- short ulna / MGI
- short nasal bone / MGI
- abnormal vertebral arch morphology / MGI
- vertebral fusion / MGI
- fusion of vertebral arches / MGI
- caudal vertebral fusion / MGI
- wide ribs / MGI
- abnormal small intestine crypts of Lieberkuhn morphology / MGI
- epididymis hypoplasia / MGI
- hypoxia / MGI
- abnormal temporal bone morphology / MGI
- abnormal humerus morphology / MGI
- abnormal incisor morphology / MGI
- renal/urinary system phenotype / MGI
- endocrine/exocrine gland phenotype / MGI
- respiratory system phenotype / MGI
- reproductive system phenotype / MGI
- skeleton phenotype / MGI
- vision/eye phenotype / MGI
- abnormal lens development / MGI
- decreased lung weight / MGI
- abnormal limb development / MGI
- abnormal testis cord formation / MGI
- disorganized testis cords / MGI
- decreased number of peritubular myoid cells / MGI
- dilated heart ventricle / MGI
- increased diameter of femur / MGI
- increased diameter of fibula / MGI
- increased diameter of humerus / MGI
- increased diameter of radius / MGI
- increased diameter of tibia / MGI
- increased diameter of ulna / MGI
- enlarged heart atrium / MGI
- decreased fetal weight / MGI
- enlarged eye anterior chamber / MGI
- cleft secondary palate / MGI
- abnormal coccyx morphology / MGI
- mortality/aging / MGI
- abnormal branching involved in lung morphogenesis / MGI
- lethality at weaning, incomplete penetrance / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
- perinatal lethality, complete penetrance / MGI
- abnormal lung-associated mesenchyme development / MGI
- abnormal mesenchymal cell proliferation involved in lung development / MGI
- increased chondrocyte number / MGI
- midface hypoplasia / MGI
- abnormal Leydig cell differentiation / MGI
- increased bone ossification / MGI
- high forehead / MGI
- premature coronal suture closure / MGI
- premature sagittal suture closure / MGI
- enlarged Meckel's cartilage / MGI
- misaligned incisors / MGI
- abnormal knee joint morphology / MGI
Literature references
- The pathologic effect of a novel neomorphic Fgf9(Y162C) allele is restricted to decreased vision and retarded lens growth.;Puk Oliver, Möller Gabriele, Geerlof Arie, Krowiorz Kathrin, Ahmad Nafees, Wagner Sibylle, Adamski Jerzy, de Angelis Martin Hrabé, Graw Jochen, ;2011;PloS one;6;e23678; 21858205
- Fgf9 Y162C Mutation Alters Information Processing and Social Memory in Mice.;Garrett Lillian, Becker Lore, Rozman Jan, Puk Oliver, Stoeger Tobias, Yildirim Ali Önder, Bohla Alexander, Eickelberg Oliver, Hans Wolfgang, Prehn Cornelia, Adamski Jerzy, Klopstock Thomas, Rácz Ildikó, Zimmer Andreas, Klingenspor Martin, Fuchs Helmut, Gailus-Durner Valerie, Wurst Wolfgang, Hrabě de Angelis Martin, Graw Jochen, Hölter Sabine M, ;2018;Molecular neurobiology;55;4580-4595; 28695538
Information on how we integrate external resources can be found here
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).