MGI phenotypes (allele matching)
- prenatal lethality, complete penetrance / MGI
C3HeB/FeJ-Kat6bm1Mhda/Ieg
| Status | Available to order |
| EMMA ID | EM:07467 |
| Citation information | RRID:IMSR_EM:07467 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 | C3HeB/FeJ-Kat6bm1Mhda/Ieg |
| Alternative name | C3HeB/FeJ-Myst4L305FMhdA/ieg |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Kat6bm1Mhda |
| Gene/Transgene symbol | Kat6b |
Information from provider
| Provider | Sibylle Sabrautzki |
| Provider affiliation | Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH) |
| Genetic information | Missense mutation in exon 2 of Myst4 (Kat6b) c.913C->T, p.L305F. |
| Phenotypic information | Heterozygous mice with no overt phenotype, homozygous mice obviously not born; embryology not analyzed; OMIM 606170 and 603736 described for KAT6B but was not analyzed. |
| Breeding history | More than 5 generations on pure C3HeB/FeJ background. |
| References | None available |
| Homozygous fertile | not known |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
| Animals used for archiving | heterozygous C3H males |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Genitopatellar syndrome / Orphanet_85201
- Blepharophimosis-intellectual disability syndrome, SBBYS type / Orphanet_3047
MGI phenotypes (gene matching)
- abnormal ear position / MGI
- short mandible / MGI
- abnormal parietal bone morphology / MGI
- abnormal long bone hypertrophic chondrocyte zone / MGI
- shortened head / MGI
- abnormal cranium morphology / MGI
- decreased brain size / MGI
- abnormal cerebral cortex morphology / MGI
- abnormal telencephalon development / MGI
- decreased body weight / MGI
- decreased body size / MGI
- microphthalmia / MGI
- postnatal growth retardation / MGI
- abnormal muscle morphology / MGI
- no abnormal phenotype detected / MGI
- small olfactory bulb / MGI
- abnormal coronal suture morphology / MGI
- abnormal occipital bone morphology / MGI
- decreased percent body fat/body weight / MGI
- abnormal neuronal migration / MGI
- abnormal epiphyseal plate morphology / MGI
- abnormal cortical plate morphology / MGI
- abnormal nasolacrimal duct morphology / MGI
- decreased inferior colliculus size / MGI
- decreased cerebral cortex pyramidal cell number / MGI
- delayed cranial suture closure / MGI
- postnatal lethality, incomplete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
- abnormal limb long bone morphology / MGI