- mammalian phenotype / IMPC
- decreased bone mineral density / IMPC
- decreased body weight / IMPC
- abnormal response to new environment / IMPC
- abnormal retinal vasculature morphology / IMPC
- abnormal bone mineralization / IMPC
- abnormal bone structure / IMPC
- increased lean body mass / IMPC
- decreased circulating amylase level / IMPC
- increased total body fat amount / IMPC
C3H.Cg-Ankrd11Yod/H
Status | Available to order |
EMMA ID | EM:00380 |
International strain name | C3H.Cg-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 (allele matching)
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
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