- increased startle reflex / IMPC
- decreased mean corpuscular volume / IMPC
- decreased circulating triglyceride level / IMPC
- decreased cardiac output / IMPC
- increased lean body mass / IMPC
- increased circulating bilirubin level / IMPC
- preweaning lethality, incomplete penetrance / IMPC
- increased circulating unsaturated transferrin level / IMPC
C57BL/6N-Col11a2tm1b(KOMP)Wtsi/Ieg
Status | Available to order |
EMMA ID | EM:10128 |
International strain name | C57BL/6N-Col11a2tm1b(KOMP)Wtsi/Ieg |
Alternative name | EPD0898_3_F06 |
Strain type | Targeted Mutant Strains |
Allele/Transgene symbol | Col11a2tm1b(KOMP)Wtsi |
Gene/Transgene symbol | Col11a2 |
Disclaimer | Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
|
Information from provider
Provider | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH) |
Provider affiliation | Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH) |
Genetic information | This mouse line originates from KOMP ES clone EPD0898_3_F06. For further details on the construction of this clone see the page at the IMPC portal. The critical exon(s) were flanked by loxP sites, and subsequent cre expression excised this critical sequence resulting in a knockout reporter allele (Gt(ROSA)26Sor |
Phenotypic information | Potential phenotyping data in the IMPC portal |
References | None available |
Information from EMMA
Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
Animals used for archiving | heterozygous C57BL/6NTac |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Otospondylomegaepiphyseal dysplasia / Orphanet_1427
- Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
- Fibrochondrogenesis / Orphanet_2021
- Autosomal dominant otospondylomegaepiphyseal dysplasia / Orphanet_166100
- Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635
IMPC phenotypes (allele matching)
IMPC phenotypes (gene matching)
- decreased cardiac output / IMPC
- decreased mean corpuscular volume / IMPC
- preweaning lethality, incomplete penetrance / IMPC
- increased startle reflex / IMPC
- decreased circulating triglyceride level / IMPC
- increased circulating unsaturated transferrin level / IMPC
- increased lean body mass / IMPC
- increased circulating bilirubin level / IMPC
MGI phenotypes (gene matching)
- abnormal nasal bone morphology / MGI
- abnormal chondrocyte morphology / MGI
- abnormal cranium morphology / MGI
- short snout / MGI
- decreased body size / MGI
- postnatal growth retardation / MGI
- abnormal tectorial membrane morphology / MGI
- enlarged tectorial membrane / MGI
- sensorineural hearing loss / MGI
- nonsyndromic hearing loss / MGI
- impaired hearing / MGI
- disorganized long bone epiphyseal plate / MGI
- abnormal articular cartilage morphology / MGI
- increased or absent threshold for auditory brainstem response / MGI
- triangular face / MGI
- prominent forehead / MGI
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).