- abnormal thymus morphology / IMPC
- enlarged thymus / IMPC
- decreased body weight / IMPC
- anophthalmia / IMPC
- abnormal skin morphology / IMPC
- abnormal eye morphology / IMPC
- abnormal tooth morphology / IMPC
- abnormal digit morphology / IMPC
- abnormal inspiratory capacity / IMPC
- increased circulating alanine transaminase level / IMPC
- increased circulating creatine kinase level / IMPC
- decreased respiratory quotient / IMPC
- increased lung compliance / IMPC
- decreased lung elastance / IMPC
- decreased lung tissue damping / IMPC
- abnormal tooth color / IMPC
- increased freezing behavior / IMPC
C57BL/6NCrl-Itgb6em1(IMPC)Ccpcz/Ph
Status | Under development - register interest |
EMMA ID | EM:12857 |
International strain name | C57BL/6NCrl-Itgb6em1(IMPC)Ccpcz/Ph |
Alternative name | |
Strain type | Endonuclease-mediated |
Allele/Transgene symbol | Itgb6em1(IMPC)Ccpcz |
Gene/Transgene symbol | Itgb6 |
Information from provider
Provider | Institute of Molecular Genetics |
Provider affiliation | Department of Transgenic Models of Diseases, Institute of Molecular Genetics |
Genetic information | This mouse line originates from CRISPR zygote microinjection. For further details see the project page at the IMPC portal. |
Phenotypic information | Potential phenotyping data in the IMPC portal |
References | None available |
Information from EMMA
Archiving centre | Institute of Molecular Genetics, Prague, Czech Republic |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Hypoplastic amelogenesis imperfecta / Orphanet_100031
- Hypocalcified amelogenesis imperfecta / Orphanet_100032
- Alopecia-intellectual disability syndrome / Orphanet_2850
IMPC phenotypes (allele matching)
IMPC phenotypes (gene matching)
- decreased body weight / IMPC
- decreased lung tissue damping / IMPC
- abnormal tooth color / IMPC
- abnormal tooth morphology / IMPC
- anophthalmia / IMPC
- enlarged thymus / IMPC
- decreased lung elastance / IMPC
- decreased respiratory quotient / IMPC
- abnormal thymus morphology / IMPC
- increased circulating alanine transaminase level / IMPC
- increased freezing behavior / IMPC
- abnormal digit morphology / IMPC
- increased lung compliance / IMPC
- abnormal inspiratory capacity / IMPC
- increased circulating creatine kinase level / IMPC
- abnormal eye morphology / IMPC
- abnormal skin morphology / IMPC
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