Phenotypes associated with this allele

• Allele Symbol: Nin^{tm1d(EUCOMM)Hmgu}
• Allele Name: targeted mutation 1d, Helmholtz Zentrum Muenchen GmbH
• Allele ID: MGI:6358684
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nin^tm1d(EUCOMM)Hmgu/Nin^tm1d(EUCOMM)Hmgu	involves: BALB/c * C57BL/6 * C57BL/6N	MGI:6358686

Genotype
MGI:6358686

hm1

• Allelic Composition: Nin^{tm1d(EUCOMM)Hmgu}/Nin^{tm1d(EUCOMM)Hmgu}
• Genetic Background: involves: BALB/c * C57BL/6 * C57BL/6N

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

postnatal lethality, incomplete penetrance ( J:277726 )

• 35% lethality, with 20% prenatal lethality and 15% postnatal lethality

prenatal lethality, incomplete penetrance ( J:277726 )

• 35% lethality, with 20% prenatal lethality and 15% postnatal lethality

integument

abnormal skin morphology ( J:277726 )

• skin shows reduced desmosome numbers and size

• desmosomes have an irregular morphology, with a faint, kinked desmoglea and with plaques appearing less dense with less keratin filaments attached

abnormal epidermal layer morphology ( J:277726 )

• corneodesmosin accumulation is reduced at the interface between granular layer cells and the stratum corneum

• however, primary cilia in the epidermis are similar to wild-type mice

thin epidermis stratum basale ( J:277726 )

• relative thickness of the basal and spinous layers is 87% of wild-type

• 18% less basal cells per unit area in the epidermis of newborns

abnormal corneocyte morphology ( J:277726 )

• corneocytes from mutant skin show less lipid deposition onto the plasma membrane

abnormal epidermal lamellar body morphology ( J:277726 )

• skin shows only a few and small lamellar bodies at the apical membrane

• however, comparable amounts of lamellar bodies with intact morphology in the cytoplasm are seen indicating defects in lamellar body secretion

decreased keratohyalin granule number ( J:277726 )

decreased keratohyalin granule size ( J:277726 )

thin epidermis stratum granulosum ( J:277726 )

• the granular layer appears thinner, with cells that have less and smaller keratohyalin granules

• relative thickness of the granular layer is 41% of wild-type

thin epidermis stratum spinosum ( J:277726 )

• relative thickness of the basal and spinous layers is 87% of wild-type

• however, the number of suprabasal cell layers is similar to wild-type mice

abnormal keratinocyte morphology ( J:277726 )

• primary keratinocytes show a loss of microtubule enrichment upon differentiation that is seen in wild-type keratinocytes

thin epidermis ( J:277726 )

• newborns exhibit a thinner epidermis, with relative thickness of the epidermis being 67% of wild-type epidermis

abnormal skin development ( J:277726 )

• skin shows reduced amounts of epidermal differentiation markers

• differentiation of suprabasal cells is impaired

delayed skin barrier formation ( J:277726 )

• E17.5 mutants show dye penetration almost all over their surface indicating defective epidermal barrier formation, however by E18.5, epidermal barrier is normal and no dye penetration is seen

abnormal skin physiology ( J:277726 )

• E16.5 mutants show increased proliferation in the suprabasal layer and a slight reduction in the basal layer

• a higher percentage of suprabasal cells in skin fail to enter a G0 state

impaired skin barrier function ( J:277726 )

• transepidermal water loss is increased in newborns, indicating that inside-out barrier is slightly compromised

homeostasis/metabolism

impaired skin barrier function ( J:277726 )

• transepidermal water loss is increased in newborns, indicating that inside-out barrier is slightly compromised

cellular

abnormal mitotic spindle morphology ( J:277726 )

• a difference in the distribution of spindle angles is seen in the epidermis, with an increase in oblique spindles with angles between 30 and 60 degrees, with a reduction of both planar orientations and perpendicular orientations