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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Dmkntm1Jonca
targeted mutation 1, Nathalie Jonca
MGI:6342886
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Dmkntm1Jonca/Dmkntm1Jonca B6.129S2(Cg)-Dmkntm1Jonca MGI:6360863


Genotype
MGI:6360863
hm1
Allelic
Composition
Dmkntm1Jonca/Dmkntm1Jonca
Genetic
Background
B6.129S2(Cg)-Dmkntm1Jonca
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmkntm1Jonca mutation (0 available); any Dmkn mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
N
• at E17.5, homozygotes show normal kinetics of epidermal barrier development, as determined by dye penetration assays
• at P5, skin barrier function is normal, as determined by trans-epidermal water loss (TEWL) and transdermal diffusion assays
• at P3, the lower stratum corneum appears more compact than that in wild-type controls
• cornified envelopes isolated from neonatal skin are more sensitive to mechanical stress, with only 10% remaining intact after a 3-min sonication versus 50% of wild-type envelopes
• levels of profilaggrin and filaggrin monomers are reduced at P3 whereas amino acid components of the natural moisturizing factor are significantly increased at P5 in the superficial stratum corneum
• the electrophoretic mobility of involucrin (a cornified envelope precursor) is modified, suggesting post-translational modifications
• however, no alterations in corneocyte cohesion or desquamation are observed in the stratum corneum at P5
• at P3, homozygotes show a deceased amount of keratohyalin granules in the stratum granulosum relative to wild-type controls; this was no longer visible after P8-10
• at P3, keratohyalin granules are smaller than those in wild-type controls
• homozygotes develop a transient scaly skin phenotype during the first week of life; this is no longer visible by P7-8, after hair growth occurs

homeostasis/metabolism
N
• adult homozygotes show normal kinetics of wound closure after acute skin injury, with no differences in the inflammatory cells infiltrate in the epidermis during wound healing





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
05/14/2024
MGI 6.23
The Jackson Laboratory