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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cdsntm1Mmat
targeted mutation 1, Mitsuru Matsumoto
MGI:3790339
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cdsntm1Mmat/Cdsntm1Mmat involves: C57BL/6 * CBA MGI:3790342
ht2
Cdsntm1Mmat/Cdsn+ involves: C57BL/6 * CBA MGI:3790343


Genotype
MGI:3790342
hm1
Allelic
Composition
Cdsntm1Mmat/Cdsntm1Mmat
Genetic
Background
involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdsntm1Mmat mutation (1 available); any Cdsn mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Cdsntm1Mmat/Cdsntm1Mmat mice exhibit stratum corneum detachment due to defective desmosome formation

mortality/aging
• all die within several hours of birth

cardiovascular system
• dilation of capillaries beneath areas of the skin where the upper epidermis is detached
• proliferation and dilation of capillaries in skin grafted onto nude mice
• dilation of capillaries beneath areas of the skin where the upper epidermis is detached
• proliferation and dilation of capillaries in skin grafted onto nude mice

integument
• when skin is grafted onto nude mice, hair grows initially but then stops and is lost
• when skin is grafted onto nude mice, individual hairs are thin and slightly curly
• when skin is grafted onto nude mice, hair follicles develop abnormal cystic dilations
• severe infiltration of inflammatory cells in skin grafted onto nude mice
• the upper epidermis is lost due to detachment of the stratum corneum from the underlying granular layer
• in skin grafted onto nude mice, the infundibular epithelium is thickened
• extremely low corneodesmosome electron density at E18.5
• desmosomal structures are reduced in number and confined to the lower stratum corneum
• in the stratum corneum of skin grafted onto nude mice, lipid droplets and remnants of nuclei and organelles are seen, fewer keratohyalin granules are present, the electron density of corneodesmosomes is reduced and formation of cornified envelopes is defective
• in skin grafted onto nude mice
• in skin grafted onto nude mice
• loss of the granular layer in skin grafted onto nude mice
• in skin grafted onto nude mice
• abnormalities in skin grafted onto nude mice resemble psoriasis




Genotype
MGI:3790343
ht2
Allelic
Composition
Cdsntm1Mmat/Cdsn+
Genetic
Background
involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdsntm1Mmat mutation (1 available); any Cdsn mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
N
• unlike human patients with hypotrichosis simplex of the scalp, no hair or skin abnormalities are seen in heterozygotes at up to 1 year of age





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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
11/12/2024
MGI 6.24
The Jackson Laboratory