Phenotypes associated with this allele

• Allele Symbol: Tfam^tm1.1Ncdl
• Allele Name: targeted mutation 1.1, Navdeep Chandel
• Allele ID: MGI:5586702
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Tfam^tm1.1Ncdl/Tfam^tm1.1Ncdl Tg(KRT14-cre)1Amc/0	involves: C57BL/6 * CBA	MGI:5586732

Genotype
MGI:5586732

cn1

• Allelic Composition: Tfam^tm1.1Ncdl/Tfam^tm1.1Ncdl; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: C57BL/6 * CBA

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

mortality/aging

premature death ( J:213840 )

• median survival is 13 days most likely the result of an epidermal barrier defect

cellular

abnormal keratinocyte differentiation ( J:213840 )

• primary keratinocytes exhibit reduced differentiation

increased keratinocyte proliferation ( J:213840 )

• cell proliferation within the basal keratinocyte layer of the epidermis is increased as compared to skin from controls

abnormal mitochondrial physiology ( J:213840 )

• keratinocytes do not generate mitochondria-derived reactive oxygen species (ROS)

• oxygen consumption is reduced in primary keratinocytes

• primary keratinocytes display reduced amounts of cellular superoxide and H₂O₂

• oxidative metabolism of glucose is reduced in primary keratinocytes as compared to controls

abnormal redox activity ( J:213840 )

endocrine/exocrine glands

absent sebaceous gland ( J:213840 )

• epidermis lacks mature sebaceous glands

growth/size/body

slow postnatal weight gain ( J:213840 )

• mice stop gaining weight in comparison to controls

integument

decreased subcutaneous adipose tissue amount ( J:213840 )

• subcutaneous fat is reduced although epidermis appears normal

abnormal keratinocyte differentiation ( J:213840 )

• primary keratinocytes exhibit reduced differentiation

absent sebaceous gland ( J:213840 )

• epidermis lacks mature sebaceous glands

progressive hair loss ( J:213840 )

• mice lack hair by P3

decreased hair follicle number ( J:213840 )

• progressive loss of hair follicles, such that mice lack hair by P3

abnormal hair cycle catagen phase ( J:213840 )

• hair follicles from P6 mice prematurely enter catagen

thick epidermis ( J:213840 )

• increased epidermal thickness by P9

abnormal keratinocyte physiology ( J:213840 )

increased keratinocyte proliferation ( J:213840 )

• cell proliferation within the basal keratinocyte layer of the epidermis is increased as compared to skin from controls

adipose tissue

decreased subcutaneous adipose tissue amount ( J:213840 )

• subcutaneous fat is reduced although epidermis appears normal