IMPC phenotypes (gene matching)
- decreased circulating serum albumin level / IMPC
C57BL/6N-Flgtm1.1Arte Hrnrtm1.1Arte/Ieg
| Status | Available to order |
| EMMA ID | EM:05513 |
| Citation information | RRID:IMSR_EM:05513 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 | C57BL/6N-Flgtm1.1Arte Hrnrtm1.1Arte/Ieg |
| Alternative name | FLG KO conv |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Flgtm1.1Arte, Hrnrtm1.1Arte |
| Gene/Transgene symbol | Flg, Hrnr |
Information from provider
| Provider | Helmholtz Zentrum Muenchen |
| Provider affiliation | Institute of Experimental Genetics, Helmholtz Zentrum Muenchen German Research Center for Environmental Health (GmbH) |
| Genetic information | Targeting strategy based on the assumption that the mouse Flg and Hrnr (or Hrnr1) loci on chromosome 3 correspond to the human FLG locus. Two subsequent rounds of gene targeting in the same B6N ES clone have been performed to inactivate the two mouse loci: the first targeting event has replaced exons 1-23 in the Flg locus with a loxP-neomycin cassette and the second targeting event has replaced exons 26-33 in the Hrnr locus with a puromycin cassette-loxP construct. Transient in vitro expression of cre recombinase has resulted in the production of a correctly targeted ES cell clone, with the two constitutive knock-out alleles. |
| Phenotypic information | TO BE PROVIDED |
| Breeding history | Maintained on C57BL/6N background. |
| References | None available |
| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | not known |
| 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 C57BL/6NTac males, wild-type C57BL/6N females |
| Stage of embryos | 2-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Pilomyxoid astrocytoma / Orphanet_251615
- Encephalocraniocutaneous lipomatosis / Orphanet_2396
- Hartsfield syndrome / Orphanet_2117
- Normosmic congenital hypogonadotropic hypogonadism / Orphanet_432
- Kallmann syndrome / Orphanet_478
- Osteoglosphonic dysplasia / Orphanet_2645
- Semilobar holoprosencephaly / Orphanet_220386
- Pfeiffer syndrome type 1 / Orphanet_93258
- Oligodontia / Orphanet_99798
- Isolated trigonocephaly / Orphanet_3366
- Septo-optic dysplasia spectrum / Orphanet_3157
- Holoprosencephaly / Orphanet_2162
MGI phenotypes (gene matching)
- small ears / MGI
- thick ears / MGI
- scaly skin / MGI
- dermatitis / MGI
- flaky skin / MGI
- shiny skin / MGI
- skin lesions / MGI
- abnormal epidermal layer morphology / MGI
- thick epidermis / MGI
- epidermal desquamation / MGI
- abnormal epidermis stratum granulosum morphology / MGI
- abnormal epidermis stratum corneum morphology / MGI
- hyperkeratosis / MGI
- decreased body size / MGI
- abnormal lipid level / MGI
- abnormal humoral immune response / MGI
- acanthosis / MGI
- abnormal skin morphology / MGI
- postnatal lethality / MGI
- increased IgG level / MGI
- increased IgE level / MGI
- impaired skin barrier function / MGI
- abnormal hair cuticle / MGI
- dry skin / MGI
- increased cholesterol level / MGI
- skin inflammation / MGI
- immune system phenotype / MGI
- abnormal skin physiology / MGI
- increased susceptibility to type IV hypersensitivity reaction / MGI
- increased IgG1 level / MGI
- increased IgG2a level / MGI
- increased interferon-gamma secretion / MGI
- increased interleukin-10 secretion / MGI
- increased interleukin-13 secretion / MGI
- increased interleukin-17 secretion / MGI
- increased interleukin-4 secretion / MGI
- increased interleukin-5 secretion / MGI
- abnormal cytokine level / MGI
- increased splenocyte proliferation / MGI
- thin epidermis stratum granulosum / MGI
- decreased keratohyalin granule number / MGI
- orthokeratosis / MGI
- epidermal spongiosis / MGI
- abnormal skin appearance / MGI
- integument phenotype / MGI
- abnormal tail ring morphology / MGI
- tail necrosis / MGI
- short ears / MGI