Phenotypes Associated with This Genotype

Genotype
MGI:2386447

• Allelic Composition: Ercc2^{tm2(ERCC2)Jhjh}/Ercc2^{tm2(ERCC2)Jhjh}; Xpa^tm1Hvs/Xpa^tm1Hvs
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:76608 )

• surviving mice dead by 22 days of age

neonatal lethality, incomplete penetrance ( J:76608 )

• incomplete penetrance

premature aging ( J:76608 )

behavior/neurological

abnormal gait ( J:76608 )

growth/size/body

cachexia ( J:76608 )

• develop extreme cachexia by 2-3 weeks of age

postnatal growth retardation ( J:76608 )

• exhibit a retarded but steady growth until 1.5 weeks, but fail to gain weight after 2-3 weeks

skeleton

kyphosis ( J:76608 )

osteoporosis ( J:76608 )

adipose tissue

abnormal adipose tissue distribution ( J:76608 )

• complete absence of body fat, including subcutaneous fat

cellular

abnormal cell death ( J:76608 )

increased cellular sensitivity to X-ray irradiation ( J:76608 )

• seen in MEFs

increased cellular sensitivity to oxidative stress ( J:76608 )

increased cellular sensitivity to ultraviolet irradiation ( J:76608 )

integument

dilated hair follicle ( J:76608 )

• severe dilation of hair follicles

hyperkeratosis ( J:76608 )

• excessive epidermal hyperkeratosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
photosensitive trichothiodystrophy		DOID:2960		J:76608
xeroderma pigmentosum group A		DOID:0110843	OMIM:278700	J:76608