IMPC phenotypes (allele matching)
C3H.C-Ankrd11Yod/H
| Status | Available to order |
| EMMA ID | EM:00380 |
| Citation information | RRID:IMSR_EM:00380 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 | C3H.C-Ankrd11Yod/H |
| Alternative name | GENA110 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Ankrd11Yod |
| Gene/Transgene symbol | Ankrd11 |
Information from provider
| Provider | Pat Nolan |
| Provider affiliation | MRC Mammalian Genetics Unit |
| Genetic information | A GC-to-AT transition point mutations in exon 11 results in a glutamine to lysine substitution in a highly conserved residue in the encoded protein. |
| Phenotypic information | Mice carrying the GENA110 mutation have craniofacial abnormalities and late on-set osteoporosis. |
| References | None available |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- KBG syndrome / Orphanet_2332
IMPC phenotypes (gene matching)
- decreased bone mineral density / IMPC
- decreased startle reflex / IMPC
- abnormal retina vasculature morphology / IMPC
- decreased lean body mass / IMPC
- increased circulating cholesterol level / IMPC
- increased total body fat amount / IMPC
- abnormal vitreous body morphology / IMPC
- abnormal response to new environment / IMPC
- decreased heart weight / IMPC
- abnormal auditory brainstem response / IMPC
- abnormal head morphology / IMPC
- abnormal startle reflex / IMPC
- increased bone mineral content / IMPC
- preweaning lethality, complete penetrance / IMPC
- decreased prepulse inhibition / IMPC
- decreased body length / IMPC
- abnormal embryo development / IMPC
- increased circulating HDL cholesterol level / IMPC
MGI phenotypes (allele matching)
- decreased bone mineral density / MGI
- abnormal nasal bone morphology / MGI
- kyphosis / MGI
- domed cranium / MGI
- increased cranium width / MGI
- decreased body length / MGI
- decreased body weight / MGI
- abnormal craniofacial bone morphology / MGI
- abnormal bone structure / MGI
- abnormal metopic suture morphology / MGI
- decreased bone mass / MGI
- short frontal bone / MGI
- enlarged parietal bone / MGI
- short nasal bone / MGI
- decreased osteoclast cell number / MGI
- decreased circulating leptin level / MGI
- abnormal frontonasal suture morphology / MGI
- decreased compact bone area / MGI
- short face / MGI
- broad face / MGI
- decreased embryo size / MGI
- failure of initiation of embryo turning / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
MGI phenotypes (gene matching)
- decreased bone mineral density / MGI
- abnormal nasal bone morphology / MGI
- kyphosis / MGI
- domed cranium / MGI
- increased cranium width / MGI
- decreased body length / MGI
- decreased body weight / MGI
- decreased embryo size / MGI
- abnormal craniofacial bone morphology / MGI
- abnormal bone structure / MGI
- abnormal metopic suture morphology / MGI
- decreased bone mass / MGI
- failure of initiation of embryo turning / MGI
- short frontal bone / MGI
- enlarged parietal bone / MGI
- short nasal bone / MGI
- decreased osteoclast cell number / MGI
- decreased circulating leptin level / MGI
- abnormal frontonasal suture morphology / MGI
- decreased compact bone area / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- short face / MGI
- broad face / MGI