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Phenotypes Associated with This Genotype
Genotype
MGI:3606859
Allelic
Composition
Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Tg(KRT14-cre)1Ipc/?
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smarca4tm1.2Pcn mutation (1 available); any Smarca4 mutation (110 available)
Tg(KRT14-cre)1Ipc mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all dead within 4-6 hours of delivery

limbs/digits/tail
• abnormal in the hindlimbs but not forelimbs
• smaller cells and less densely packed
• in less extreme cases, all five digits are present but are abnormal
• on the hind limb
• occurs in more extreme cases
• malformed in contrast to forelimbs which are normal
• in extreme cases, tibia is absent
• femur is always normal

embryo
• abnormal in the hindlimbs but not forelimbs
• smaller cells and less densely packed

homeostasis/metabolism
• epidermis is more permeable
• fetus shows 7 fold greater trans-epidermal water loss
• 5-10% of body weight lost within 4-6 hours of delivery

integument
• epidermis is more permeable
• fetus shows 7 fold greater trans-epidermal water loss
• 5-10% of body weight lost within 4-6 hours of delivery
• dorsal and ventral skin folds broader and more disorganized
• 4-6 layers as usual but flatter cells than normal
• vesicles rather than lipid discs between stratum granulosum and corneum
• lamellar membranes in corneum were disorganized and highly variable in thickness
• 5 fold fewer corneodesmosomes
• lower layers of epidermis essentially normal
• skin becomes dry and waxy within 30-45 minutes of delivery
• red and glossy immediately after caesarian delivery
• sticky to touch


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)
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last database update
03/25/2025
MGI 6.24
The Jackson Laboratory