Mouse Genome Informatics
hm
    Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Cutaneous phenotypes of Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh and Ercc2tm2(ERCC2)Jhjh/Ercc2tm2Jmch mice

mortality/aging
• most dead by 1 year (J:48256)
• acquire an aged appearance beginning at 3 months of age

tumorigenesis
N
• no sign of cancer predisposition after exposure to a daily dose of 80 J/m2 UV (J:112689)
• increased UV- and DMBA-induced skin cancer susceptibility

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

behavior/neurological
• occasional tremors, however no overt myelination defect

growth/size/body
• progressive weight loss and cachexia as death neared (J:48256)
• cachectic dwarfism
• evident from birth (J:48256)

hematopoietic system
• mild normochrome anemia at 6 months of age (J:76608)
• progressive with age

immune system
• progressive with age

reproductive system
• older females (~16 months) showed ovarian dysfunction, ranging from complete anovulation to sporadic, seemingly normal, ovulation (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
• showed signs of skeleton abnormalities
• prominently exhibited in older mice (14 months of age) (J:76608)
• reduced radiodensity of skeleton, except for skull, observed in older mice (14 months of age)

adipose tissue
• adipose tissue hypoplasia, most prominent at older age

endocrine/exocrine glands
• benign hyperplasia of the sebaceous gland

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

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

integument
• benign hyperplasia of the sebaceous gland
• reduced cysteine content of hair and increased fraction of intermedaite filament keratins in hair
• show patchy depigmentation earlier and more frequently than wild-type as they age
• 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
• abnormal cuticle structure
• follicular plugging and dilation
• thickening of the granular layer (J:48256)
• ichthyosis, particularly in the neck region
• ichthyosis, particulary in the neck region

Mouse Models of Human Disease
OMIM IDRef(s)
Trichothiodystrophy, Photosensitive; TTDP 601675 J:48256 , J:76608