IMPC phenotypes (gene matching)
C.129P2-Krt5tm1Tmm/Ieg
| Status | Available to order |
| EMMA ID | EM:01740 |
| International strain name | C.129P2-Krt5tm1Tmm/Ieg |
| Alternative name | K5(+/-) heterozygous |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Krt5tm1Tmm |
| Gene/Transgene symbol | Krt5 |
Information from provider
| Provider | Thomas Magin |
| Provider affiliation | Institute of physiological chemistry / Dept. of cellular biochemistry, University of Bonn |
| Genetic information | The promoter and first 2 exons of keratin 5 gene (Krt5) were replaced with an Hprt cassette via homologous recombination in ES cells. |
| Phenotypic information | Heterozygous pups appeared inconspicuous at birth and displayed no overt phenotype. Homozygotes were easily identified at birth because they displayed an extremely delicate, loose, and fragile epidermis that lost contact with the dermis. Paw areas were denuded in some pups. The pups appeared to have breathing problems because sometimes the torn off epidermis had moved to close their nostrils and mouth. Stomachs of homozygous pups contained no milk. All Krt5 -/- animals died within the first hour after birth. Obviously, the structural weakening of the epidermis caused by the loss of Krt5 rendered the epidermis extremely fragile and prone to rupturing during the physical trauma of birth. |
| Breeding history | K5 mice have been backcrossed to the BALB/c background for 8 generations. |
| References |
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Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Dowling-Degos disease / Orphanet_79145
- Epidermolysis bullosa simplex, generalized intermediate / Orphanet_79399
- Epidermolysis bullosa simplex, generalized severe / Orphanet_79396
- Epidermolysis bullosa simplex with mottled pigmentation / Orphanet_79397
- Epidermolysis bullosa simplex with circinate migratory erythema / Orphanet_158681
- Localized epidermolysis bullosa simplex / Orphanet_79400
MGI phenotypes (allele matching)
- abnormal esophageal epithelium morphology / MGI
- abnormal stomach morphology / MGI
- abnormal autopod morphology / MGI
- abnormal tongue epithelium morphology / MGI
- abnormal epidermal layer morphology / MGI
- abnormal tail morphology / MGI
- abnormal palate morphology / MGI
- absent gastric milk in neonates / MGI
- neonatal lethality, complete penetrance / MGI
MGI phenotypes (gene matching)
- abnormal esophageal epithelium morphology / MGI
- abnormal stomach morphology / MGI
- abnormal autopod morphology / MGI
- abnormal tongue epithelium morphology / MGI
- abnormal epidermal layer morphology / MGI
- abnormal tail morphology / MGI
- abnormal palate morphology / MGI
- absent gastric milk in neonates / MGI
- neonatal lethality, complete penetrance / MGI
Literature references
- Complete cytolysis and neonatal lethality in keratin 5 knockout mice reveal its fundamental role in skin integrity and in epidermolysis bullosa simplex.;Peters B, Kirfel J, Büssow H, Vidal M, Magin T M, ;2001;Molecular biology of the cell;12;1775-89; 11408584