Phenotypes associated with this allele

• Allele Symbol: Ercc3^tm2Jhjh
• Allele Name: targeted mutation 2, Jan H J Hoeijmakers
• Allele ID: MGI:3836429
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ercc3^tm2Jhjh/Ercc3^tm2Jhjh	B6.129P2-Ercc3^tm2Jhjh	MGI:3836472
cx2	Ercc3^tm2Jhjh/Ercc3^tm2Jhjh Xpa^tm1Hvs/Xpa^tm1Hvs	involves: 129P2/OlaHsd * C57BL/6	MGI:3836474
cx3	Ercc2^tm2(ERCC2)Jhjh/Ercc2^tm2(ERCC2)Jhjh Ercc3^tm2Jhjh/Ercc3^tm2Jhjh	involves: 129P2/OlaHsd * C57BL/6	MGI:3836475

Genotype
MGI:3836472

hm1

• Allelic Composition: Ercc3^tm2Jhjh/Ercc3^tm2Jhjh
• Genetic Background: B6.129P2-Ercc3^tm2Jhjh

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

mortality/aging

mortality/aging ( J:145759 )

N • mice are born in Mendelian frequencies and exhibit normal mortality and aging

cellular

increased cellular sensitivity to gamma-irradiation ( J:145759 )

• slightly

increased cellular sensitivity to ultraviolet irradiation ( J:145759 )

• mice exhibit greater sensitivity to UV irradiation than wild-type cells but not as much a in Xpa^tm1Hvs homozygous cells

integument

acanthosis ( J:145759 )

• moderately enhanced following UV irradiation

epidermal hyperplasia ( J:145759 )

• following UV irradiation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
xeroderma pigmentosum group B		DOID:0110850	OMIM:610651	J:145759

Genotype
MGI:3836474

cx2

• Allelic Composition: Ercc3^tm2Jhjh/Ercc3^tm2Jhjh; Xpa^tm1Hvs/Xpa^tm1Hvs
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

premature death ( J:145759 )

• most severely affected mice die between 3 and 4 weeks of age

premature aging ( J:145759 )

• some mice exhibit symptoms of premature aging including progressive cachexia, early cessation of growth, neurological abnormalities, and severely reduced life span

• however, mice do not exhibit osteoporosis or increased incidence of spontaneous tumors

reproductive system

testicular atrophy ( J:145759 )

♂ • prematurely at 1.5 years of age

behavior/neurological

tremors ( J:145759 )

• occasional in 30% of mice at 2 months of age

ataxia ( J:145759 )

• occasional in 30% of mice at 2 months of age

impaired balance ( J:145759 )

• in the last week of live for mice that die prematurely

impaired limb coordination ( J:145759 )

• at 2 months of age, impaired hindlimb coordination is occasional observed in 30% of mice unlike in wild-type mice

abnormal gait ( J:145759 )

• mild gait abnormalities are observed in mice from P12 to 2 months of age and again in ageing mice that develop pronounced kyphosis

hyperactivity ( J:145759 )

• 5 of 23 mice exhibit abnormal hyperactivity, excitability and nervous behavior but only 1 mouse continued to display these behaviors beyond 2 months of age

cellular

increased cellular sensitivity to gamma-irradiation ( J:145759 )

increased cellular sensitivity to oxidative stress ( J:145759 )

• mouse embryonic fibroblasts exhibit increased sensitivity to oxidative stress induced by paraquat treatment compared to similarly treated wild-type cells

increased cellular sensitivity to ultraviolet irradiation ( J:145759 )

growth/size/body

decreased body weight ( J:145759 )

• some mice exhibit reduced weight between P10 and P21 compared to wild-type mice

slow postnatal weight gain ( J:145759 )

• after P10 mice fail to gain weight

• however, mice surviving after 3 months reach normal weight

cachexia ( J:145759 )

skeleton

abnormal cranium morphology ( J:145759 )

• at 1.5 years of age, mice exhibit deformed and thickened skulls, mainly in the occipital region, compared to wild-type mice

kyphosis ( J:145759 )

• severe in the last week of live for mice that die prematurely

• between 8 and 12 months, 5 of 23 mice exhibit premature kyphosis

muscle

muscle hypertonia ( J:145759 )

• occasional in 30% of mice at 2 months of age

craniofacial

abnormal cranium morphology ( J:145759 )

• at 1.5 years of age, mice exhibit deformed and thickened skulls, mainly in the occipital region, compared to wild-type mice

endocrine/exocrine glands

testicular atrophy ( J:145759 )

♂ • prematurely at 1.5 years of age

Genotype
MGI:3836475

cx3

• Allelic Composition: Ercc2^{tm2(ERCC2)Jhjh}/Ercc2^{tm2(ERCC2)Jhjh}; Ercc3^tm2Jhjh/Ercc3^tm2Jhjh
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

postnatal lethality, complete penetrance ( J:145759 )

• mice die within 2 days of birth

cellular

increased cellular sensitivity to gamma-irradiation ( J:145759 )

increased cellular sensitivity to oxidative stress ( J:145759 )

• mouse embryonic fibroblasts exhibit increased sensitivity to oxidative stress induced by paraquat treatment compared to similarly treated wild-type cells

increased cellular sensitivity to ultraviolet irradiation ( J:145759 )

• mouse embryonic fibroblasts exhibit slightly increased UV sensitivity compared to cells homozygous for either allele

growth/size/body

postnatal growth retardation ( J:145759 )

• mice fail to grow after birth despite nursing normally