Phenotypes Associated with This Genotype

Genotype
MGI:2386444

• Allelic Composition: Ercc2^{tm2(ERCC2)Jhjh}/Ercc2^{tm2(ERCC2)Jhjh}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

Cutaneous phenotypes of Ercc2^{tm2(ERCC2)Jhjh}/Ercc2^{tm2(ERCC2)Jhjh} and Ercc2^{tm2(ERCC2)Jhjh}/Ercc2^tm2Jmch mice

mortality/aging

premature death ( J:48256 , J:116054 )

• most dead by 1 year (J:48256)

premature aging ( J:76608 )

• acquire an aged appearance beginning at 3 months of age

neoplasm

neoplasm ( J:112689 )

N • no sign of cancer predisposition after exposure to a daily dose of 80 J/m² UV

increased incidence of induced tumors ( J:48256 )

• increased UV- and DMBA-induced skin cancer susceptibility

pigmentation

white spotting ( J:76608 )

• show patchy depigmentation earlier and more frequently than wild-type as they age

behavior/neurological

tremors ( J:48256 )

• occasional tremors, however no overt myelination defect

growth/size/body

cachexia ( J:48256 , J:76608 , J:116054 )

• progressive weight loss and cachexia as death neared (J:48256)

disproportionate dwarf ( J:48256 )

• cachectic dwarfism

postnatal growth retardation ( J:48256 , J:116054 )

• evident from birth (J:48256)

enlarged spleen ( J:76608 )

• progressive with age

hematopoietic system

enlarged spleen ( J:76608 )

• progressive with age

anemia ( J:76608 , J:116054 )

• mild normochrome anemia at 6 months of age (J:76608)

decreased erythrocyte cell number ( J:76608 )

• 84% of wild-type

decreased hematocrit ( J:76608 )

decreased hemoglobin content ( J:76608 )

immune system

enlarged spleen ( J:76608 )

• progressive with age

reproductive system

abnormal ovulation ( J:76608 )

♀ • older females (~16 months) showed ovarian dysfunction, ranging from complete anovulation to sporadic, seemingly normal, ovulation

reduced female fertility ( J:48256 , J:76608 )

♀ (J:48256)

♀ • females lose fertility over time, never produce more than one litter and never produce a litter after 6 months of age, although initial sexual development is unimpaired (J:76608)

skeleton

abnormal skeleton morphology ( J:48256 )

• showed signs of skeleton abnormalities

kyphosis ( J:76608 , J:116054 )

• prominently exhibited in older mice (14 months of age) (J:76608)

decreased bone mineral density ( J:76608 )

• reduced radiodensity of skeleton, except for skull, observed in older mice (14 months of age)

osteoporosis ( J:76608 , J:116054 )

adipose tissue

abnormal fat cell morphology ( J:48256 )

• adipose tissue hypoplasia, most prominent at older age

endocrine/exocrine glands

abnormal sebaceous gland morphology ( J:116054 )

enlarged sebaceous gland ( J:76608 )

• benign hyperplasia of the sebaceous gland

homeostasis/metabolism

abnormal circulating amino acid level ( J:76608 )

• decrease in serum levels of branched-chain amino acids (valine, leucine, and isoleucine) at 6 months of age, indicating starvation

cellular

abnormal cell physiology ( J:112689 )

• following UV exposure DNA incision activity and unscheduled DNA synthesis are decreased compared to wild-type MEFs

integument

abnormal sebaceous gland morphology ( J:116054 )

enlarged sebaceous gland ( J:76608 )

• benign hyperplasia of the sebaceous gland

abnormal coat/ hair morphology ( J:48256 )

• reduced cysteine content of hair and increased fraction of intermedaite filament keratins in hair

white spotting ( J:76608 )

• show patchy depigmentation earlier and more frequently than wild-type as they age

alopecia ( J:48256 )

• progressive hair loss, beginning at head around P19

• by 4 weeks of age, most hair absent, except a small band of fur at feet and tail

• mew coat grew with second cycle of hair growth, but progressive hair loss again followed

sparse hair ( J:116054 )

brittle hair ( J:48256 , J:116054 )

greasy coat ( J:48256 , J:116054 )

abnormal hair follicle morphology ( J:48256 )

• abnormal cuticle structure

enlarged hair follicles ( J:48256 )

• follicular plugging and dilation

hyperkeratosis ( J:48256 , J:116054 )

abnormal epidermis stratum granulosum morphology ( J:116054 )

• hyperplasia

acanthosis ( J:48256 , J:116054 )

• thickening of the granular layer (J:48256)

scaly skin ( J:48256 )

• ichthyosis, particularly in the neck region

thick skin ( J:48256 )

• ichthyosis, particulary in the neck region

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
photosensitive trichothiodystrophy		DOID:2960		J:48256 , J:76608