About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Grhl1tm1Jane
targeted mutation 1, Stephen M Jane
MGI:3778923
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Grhl1tm1Jane/Grhl1tm1Jane involves: BALB/cJ MGI:3779101
cn2
Grhl1tm1Jane/Grhl1tm1Jane
Grhl3tm1Jane/Grhl3tm3.1Jane
Tg(KRT14-cre/ERT)20Efu/0
involves: 129S1/Sv * C57BL/6 * CD-1 MGI:5896360
cn3
Grhl1tm1Jane/Grhl1tm1Jane
Grhl3tm1Jane/Grhl3tm3.1Jane
Tg(KRT14-cre)8Brn/0
involves: 129S1/Sv * C57BL/6 * FVB/N MGI:5896359


Genotype
MGI:3779101
hm1
Allelic
Composition
Grhl1tm1Jane/Grhl1tm1Jane
Genetic
Background
involves: BALB/cJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grhl1tm1Jane mutation (1 available); any Grhl1 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• similar in size at birth and at 2 months of age but significantly smaller than littermate controls at weaning

cardiovascular system
N
• unlike human patients with striate palmoplantar keratoderma disorder, no evidence of cardiomyopathy is detected

integument
• over 30% of mice lack hair at weaning with the remainder having sparse coats
• extensive regional hair loss is seen when mice are housed with other mice with regrowth when mice are housed alone
• despite the thinner coat, in a tape-stripping test more hairs are removed compared to wild-type controls
• delay in coat growth that may be the result of maternal grooming
• over 30% of mice lack hair at weaning with the remainder having sparse coats
• coat remains sparse throughout life
• sections of skin from hypotrichotic regions contain empty cysts in telogen follicles
• cleft between the inner and outer root sheath
• depilated hairs have a naked anagen bulb lacking the inner and outer root sheath
• fewer desmosomes are identified in the interfolicular epidermis and unlike in wild-type mice, this number is further reduced after EGTA treatment
• marked thickening of the stratum corneum on the palmoplantar surfaces of the paws




Genotype
MGI:5896360
cn2
Allelic
Composition
Grhl1tm1Jane/Grhl1tm1Jane
Grhl3tm1Jane/Grhl3tm3.1Jane
Tg(KRT14-cre/ERT)20Efu/0
Genetic
Background
involves: 129S1/Sv * C57BL/6 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grhl1tm1Jane mutation (1 available); any Grhl1 mutation (33 available)
Grhl3tm1Jane mutation (1 available); any Grhl3 mutation (53 available)
Grhl3tm3.1Jane mutation (1 available); any Grhl3 mutation (53 available)
Tg(KRT14-cre/ERT)20Efu mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all die within 7 weeks of tamoxifen treatment

integument
• regression of skin barrier function after tamoxifen treatment
• dye penetration is variegated matching the pattern of cre mediated gene deletion
• after tamoxifen treatment gross abnormalities and increased fragility are seen
• after tamoxifen treatment

homeostasis/metabolism
• regression of skin barrier function after tamoxifen treatment
• dye penetration is variegated matching the pattern of cre mediated gene deletion




Genotype
MGI:5896359
cn3
Allelic
Composition
Grhl1tm1Jane/Grhl1tm1Jane
Grhl3tm1Jane/Grhl3tm3.1Jane
Tg(KRT14-cre)8Brn/0
Genetic
Background
involves: 129S1/Sv * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grhl1tm1Jane mutation (1 available); any Grhl1 mutation (33 available)
Grhl3tm1Jane mutation (1 available); any Grhl3 mutation (53 available)
Grhl3tm3.1Jane mutation (1 available); any Grhl3 mutation (53 available)
Tg(KRT14-cre)8Brn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• present in expected numbers at E18.5 but all died by P3 with most lost during the first 48 hours after birth

integument
• at P2 excessive fluid loss and regression of skin barrier function leads to dehydration and death
• loss of cornified envelope integrity by P2

homeostasis/metabolism
• at P2 excessive fluid loss and regression of skin barrier function leads to dehydration and death





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
10/29/2024
MGI 6.24
The Jackson Laboratory