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Phenotypes Associated with This Genotype
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc2tm2(ERCC2)Jhjh mutation (0 available); any Ercc2 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

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

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

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

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

• occasional tremors, however no overt myelination defect

• 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
• 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)

• 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

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

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

• 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 ID Ref(s)
Trichothiodystrophy 1, Photosensitive; TTD1 601675 J:48256 , J:76608

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory