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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Xpatm1Hvs
targeted mutation 1, Harry van Steeg
MGI:1857939
Summary 14 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Xpatm1Hvs/Xpatm1Hvs involves: 129P2/OlaHsd MGI:3836473
hm2
 		Xpatm1Hvs/Xpatm1Hvs involves: 129P2/OlaHsd * C57BL/6 MGI:2386450
hm3
 		Xpatm1Hvs/Xpatm1Hvs involves: 129P2/OlaHsd * C57BL/6J MGI:3767956
ht4
 		Xpatm1Gvh/Xpatm1Hvs involves: 129P2/OlaHsd * C57BL/6J MGI:5312288
cn5
 		Ercc6tm1Gvh/Ercc6tm1Gvh
Xpatm1Gvh/Xpatm1Hvs
Tg(Pcp2-cre)2Mpin/0 		involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:5312301
cn6
 		Xpatm1Gvh/Xpatm1Hvs
Tg(CAG-cre)13Miya/0 		involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J MGI:5312289
cn7
 		Ercc6tm1Gvh/Ercc6tm1Gvh
Xpatm1Gvh/Xpatm1Hvs
Tg(CAG-cre)13Miya/0 		involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J MGI:5312296
cn8
 		Ercc6tm1Gvh/Ercc6tm1Gvh
Xpatm1Gvh/Xpatm1Hvs
Tg(Camk2a-cre)1Szi/0 		involves: 129P2/OlaHsd * C57BL/6J * CBA MGI:5312300
cx9
 		Ercc6tm1Gvh/Ercc6tm1Gvh
Xpatm1Hvs/Xpatm1Hvs 		B6.129P2-Xpatm1Hvs Ercc6tm1Gvh MGI:3767861
cx10
 		Trp53tm1Tyj/Trp53+
Xpatm1Hvs/Xpatm1Hvs 		involves: 129P2/OlaHsd * 129S2/SvPas MGI:4947935
cx11
 		Ercc3tm2Jhjh/Ercc3tm2Jhjh
Xpatm1Hvs/Xpatm1Hvs 		involves: 129P2/OlaHsd * C57BL/6 MGI:3836474
cx12
 		Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Xpatm1Hvs/Xpatm1Hvs 		involves: 129P2/OlaHsd * C57BL/6 MGI:2386447
cx13
 		Ercc2tm3Jhjh/Ercc2tm3Jhjh
Xpatm1Hvs/Xpatm1Hvs 		involves: 129P2/OlaHsd * C57BL/6 * FVB MGI:3696369
cx14
 		Ercc6tm1Gvh/Ercc6tm1Gvh
Xpatm1Hvs/Xpatm1Hvs 		involves: 129P2/OlaHsd * C57BL/6J MGI:3767853


Genotype
MGI:3836473
hm1
Allelic
Composition		 Xpatm1Hvs/Xpatm1Hvs
Genetic
Background		 involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Xpatm1Hvs mutation (3 available); any Xpa mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular

homeostasis/metabolism
skin edema ( J:145759 )
• following UV irradiation

integument
skin edema ( J:145759 )
• following UV irradiation
abnormal epidermal layer morphology ( J:145759 )
• following UV irradiation, mice exhibit recurrent loss of the epidermis unlike similarly treated wild-type mice
acanthosis ( J:145759 )
• following UV irradiation
reddish skin ( J:145759 )
• following UV irradiation
scaly skin ( J:145759 )
• following UV irradiation




Genotype
MGI:2386450
hm2
Allelic
Composition		 Xpatm1Hvs/Xpatm1Hvs
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Xpatm1Hvs mutation (3 available); any Xpa mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
embryonic lethality during organogenesis, incomplete penetrance ( J:28710 )
• incomplete penetrance, ~50% dead after E13, with normal ratios seen up to that time
• death likely due to severe anemia
• mice that survive this period are born and survive up to 13 months of age with no obvious abnormalities and no spontaneous tumor development

liver/biliary system
small liver ( J:28710 )
• decreased liver size after E13

growth/size/body
fetal growth retardation ( J:28710 )
• observed after E13

hematopoietic system
anemia ( J:28710 )
• approximately 50% of the embryos died in the mid-fetal period due to severe anemia
impaired hematopoiesis ( J:28710 )
• disturbed liver hematopoiesis shown after E13

neoplasm
increased incidence of induced tumors ( J:28710 )
• enhanced UV-induced skin and eye tumor and DMBA-induced skin tumor susceptibility
increased incidence of tumors by UV-induction ( J:112689 )
• at 23 weeks after the start of UV-B exposure (100 J/m2/day) skin and/or eye tumors are seen in 1 of 5 mice and by 31 weeks all 5 mice have tumors, while no tumors are seen in wild-type mice

cellular
abnormal cell physiology ( J:112689 )
• following UV exposure DNA incision activity and unscheduled DNA synthesis are decreased compared to wild-type MEFs

vision/eye
cornea opacity ( J:112689 )
• develops after low level UV-B exposure (100 J/m2/day) in 3 of 5 mice at 11 weeks after start of exposure

integument
pallor ( J:28710 )
• light appearance of the embryo in its intact yolk sac after E13




Genotype
MGI:3767956
hm3
Allelic
Composition		 Xpatm1Hvs/Xpatm1Hvs
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Xpatm1Hvs mutation (3 available); any Xpa mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular




Genotype
MGI:5312288
ht4
Allelic
Composition		 Xpatm1Gvh/Xpatm1Hvs
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Xpatm1Gvh mutation (0 available); any Xpa mutation (21 available)
Xpatm1Hvs mutation (3 available); any Xpa mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
decreased cellular sensitivity to ultraviolet irradiation ( J:179808 )
• mouse embryonic fibroblasts are resistant to UV irradiation compared with control mice




Genotype
MGI:5312301
cn5
Allelic
Composition		 Ercc6tm1Gvh/Ercc6tm1Gvh
Xpatm1Gvh/Xpatm1Hvs
Tg(Pcp2-cre)2Mpin/0
Genetic
Background		 involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc6tm1Gvh mutation (1 available); any Ercc6 mutation (78 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
Xpatm1Gvh mutation (0 available); any Xpa mutation (21 available)
Xpatm1Hvs mutation (3 available); any Xpa mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Neurodegenerative changes in Ercc6tm1Gvh/Ercc6tm1Gvh Xpatm1Gvh/Xpatm1Hvs Tg(Pcp2-cre)2Mpin/0 mice

nervous system
axon degeneration ( J:179808 )
• argyrophilic axonal degeneration in the cerebellar white matter and cerebellar nuclei

immune system

hematopoietic system




Genotype
MGI:5312289
cn6
Allelic
Composition		 Xpatm1Gvh/Xpatm1Hvs
Tg(CAG-cre)13Miya/0
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(CAG-cre)13Miya mutation (1 available)
Xpatm1Gvh mutation (0 available); any Xpa mutation (21 available)
Xpatm1Hvs mutation (3 available); any Xpa mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular




Genotype
MGI:5312296
cn7
Allelic
Composition		 Ercc6tm1Gvh/Ercc6tm1Gvh
Xpatm1Gvh/Xpatm1Hvs
Tg(CAG-cre)13Miya/0
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc6tm1Gvh mutation (1 available); any Ercc6 mutation (78 available)
Tg(CAG-cre)13Miya mutation (1 available)
Xpatm1Gvh mutation (0 available); any Xpa mutation (21 available)
Xpatm1Hvs mutation (3 available); any Xpa mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Ercc6tm1Gvh/Ercc6tm1Gvh Xpatm1Gvh/Xpatm1Hvs Tg(CAG-cre)13Miya/0 mice are severely reduced in size

mortality/aging

behavior/neurological

growth/size/body
cachexia ( J:179808 )
postnatal growth retardation ( J:179808 )




Genotype
MGI:5312300
cn8
Allelic
Composition		 Ercc6tm1Gvh/Ercc6tm1Gvh
Xpatm1Gvh/Xpatm1Hvs
Tg(Camk2a-cre)1Szi/0
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6J * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc6tm1Gvh mutation (1 available); any Ercc6 mutation (78 available)
Tg(Camk2a-cre)1Szi mutation (0 available)
Xpatm1Gvh mutation (0 available); any Xpa mutation (21 available)
Xpatm1Hvs mutation (3 available); any Xpa mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Dilated ventricles and brain atrophy in Ercc6tm1Gvh/Ercc6tm1Gvh Xpatm1Gvh/Xpatm1Hvs Tg(Camk2a-cre)1Szi/0 mice

mortality/aging
premature death ( J:179808 )
• between 12 and 22 months

nervous system
seizures ( J:179808 )
• from 9 to 12 months of age, mice exhibit seizure behavior characterized by episodes of immobility unlike control mice
abnormal telencephalon morphology ( J:179808 )
• at 6 to 12 months of age, mice exhibit atrophy in the telencephalon (cortex, hippocampus, caudate-putamen and septum) unlike control mice
abnormal dorsal striatum morphology ( J:179808 )
• atrophic at 6 to 12 months of age
hippocampus atrophy ( J:179808 )
• atrophic at 6 to 12 months of age
abnormal cerebral cortex morphology ( J:179808 )
• mild atrophy at 6 months of age
• severe atrophy in older mice
abnormal neocortex morphology ( J:179808 )
• atrophic at 65 weeks
thin cerebral cortex ( J:179808 )
• at 6 to 12 months of age

behavior/neurological
impaired coordination ( J:179808 )
• at 12 months of age
seizures ( J:179808 )
• from 9 to 12 months of age, mice exhibit seizure behavior characterized by episodes of immobility unlike control mice

growth/size/body
decreased body size ( J:179808 )
• at 9 to 12 months of age
decreased body weight ( J:179808 )
• at 9 to 12 months of age

immune system

hematopoietic system




Genotype
MGI:3767861
cx9
Allelic
Composition		 Ercc6tm1Gvh/Ercc6tm1Gvh
Xpatm1Hvs/Xpatm1Hvs
Genetic
Background		 B6.129P2-Xpatm1Hvs Ercc6tm1Gvh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc6tm1Gvh mutation (1 available); any Ercc6 mutation (78 available)
Xpatm1Hvs mutation (3 available); any Xpa mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Skeletal and neurological abnormalities in Ercc6tm1Gvh/Ercc6tm1Gvh Xpatm1Hvs/Xpatm1Hvs mice

mortality/aging

growth/size/body
postnatal growth retardation ( J:122013 )
• near normal size of skull at P11 and P21, implying that postnatal growth retardation is restricted to the trunk

cellular
increased cellular sensitivity to gamma-irradiation ( J:122013 )
• retina exhibits enhanced ionizing radiation sensitivity

adipose tissue
abnormal abdominal fat pad morphology ( J:122013 )
• substantial loss of abdominal fat is seen in P15 mutants
lipodystrophy ( J:122013 )
• generalized lipodystrophy (loss and abnormal redistribution of body fat)

behavior/neurological
tremors ( J:122013 )
• tremors become evident around P10
abnormal limb posture ( J:122013 )
• abnormal posture of the hind limbs (flexion rather than extension in tail suspension test) becomes evident around P10
abnormal gait ( J:122013 )
• disturbed gait from P15 onwards, showing a non-uniform alternating left-right step pattern and unevenly spaced shorter strides
short stride length ( J:122013 )
• unevenly spaced shorter strides

homeostasis/metabolism
hypoglycemia ( J:122013 )
• significantly lower blood glucose levels; following an initial reduction of about 30% in 7 and 10 day old mutants, blood glucose levels start to drop at P15
• presence of milk and food in the stomach and normal appearance of intestinal epithelium indicates that hypoglycemia is not due to food intake
increased liver glycogen level ( J:122013 )
• pups exhibit enhanced hepatic accumulation of glycogen in unusually large vesicles

vision/eye
abnormal retina morphology ( J:122013 )
• retina exhibits enhanced ionizing radiation sensitivity
abnormal retina inner nuclear layer morphology ( J:122013 )
• number of apoptotic cells in the inner nuclear layer of the retina is increased compared to wild-type or single mutant mice
abnormal retina outer nuclear layer morphology ( J:122013 )
• number of apoptotic cells in the outer nuclear layer of the retina is increased compared to wild-type or single mutant mice
retina degeneration ( J:122013 )
• increased apoptosis in the outer and inner nuclear layers

skeleton
kyphosis ( J:122013 )
• kyphosis is seen at P21 but not at P11
abnormal epiphyseal plate morphology ( J:122013 )
• less developed tibiae growth plate

nervous system
abnormal Purkinje cell morphology ( J:122013 )
• Purkinje cell loss

muscle

liver/biliary system
increased liver glycogen level ( J:122013 )
• pups exhibit enhanced hepatic accumulation of glycogen in unusually large vesicles
hepatic steatosis ( J:122013 )
• livers show enhanced accumulation of triglycerides, indicating hepatic steatosis

limbs/digits/tail
long limbs ( J:122013 )
• as pups lose weight in the third week of life, bone growth proceeds, resulting in relatively large extremities

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Cockayne syndrome DOID:2962 J:122013




Genotype
MGI:4947935
cx10
Allelic
Composition		 Trp53tm1Tyj/Trp53+
Xpatm1Hvs/Xpatm1Hvs
Genetic
Background		 involves: 129P2/OlaHsd * 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trp53tm1Tyj mutation (12 available); any Trp53 mutation (240 available)
Xpatm1Hvs mutation (3 available); any Xpa mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
neoplasm
increased incidence of tumors by chemical induction ( J:170769 )
• 22 of 40 mice treated with 2-AAF develop urinary bladder tumors
increased urinary system tumor incidence ( J:170769 )
• 22 of 40 mice treated with 2-AAF develop urinary bladder tumors

homeostasis/metabolism
increased incidence of tumors by chemical induction ( J:170769 )
• 22 of 40 mice treated with 2-AAF develop urinary bladder tumors

renal/urinary system
increased urinary system tumor incidence ( J:170769 )
• 22 of 40 mice treated with 2-AAF develop urinary bladder tumors




Genotype
MGI:3836474
cx11
Allelic
Composition		 Ercc3tm2Jhjh/Ercc3tm2Jhjh
Xpatm1Hvs/Xpatm1Hvs
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc3tm2Jhjh mutation (0 available); any Ercc3 mutation (32 available)
Xpatm1Hvs mutation (3 available); any Xpa mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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 oxidative stress ( J:145759 )
• mouse embryonic fibroblasts exhibit increased sensitivity to oxidative stress induced by paraquat treatment compared to similarly treated wild-type cells

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:2386447
cx12
Allelic
Composition		 Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Xpatm1Hvs/Xpatm1Hvs
Genetic
Background		 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 (23 available)
Xpatm1Hvs mutation (3 available); any Xpa mutation (21 available)
♀ 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

behavior/neurological

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

adipose tissue
abnormal adipose tissue distribution ( J:76608 )
• complete absence of body fat, including subcutaneous fat

cellular

integument
dilated hair follicle ( J:76608 )
• severe dilation of hair follicles
hyperkeratosis ( J:76608 )
• excessive epidermal hyperkeratosis




Genotype
MGI:3696369
cx13
Allelic
Composition		 Ercc2tm3Jhjh/Ercc2tm3Jhjh
Xpatm1Hvs/Xpatm1Hvs
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc2tm3Jhjh mutation (0 available); any Ercc2 mutation (23 available)
Xpatm1Hvs mutation (3 available); any Xpa mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality, complete penetrance ( J:112689 )
• maximal life span of about 3 weeks

behavior/neurological
tremors ( J:112689 )
• tremors and spasticity
impaired balance ( J:112689 )
• progressive disturbance in balance

growth/size/body
postnatal growth retardation ( J:112689 )
• growth failure despite no obvious impairment in nursing

nervous system
Purkinje cell degeneration ( J:112689 )
• at 20 days of age Purkinje cell degeneration with loss of both proximal and distal dendrites and cell bodies is seen
• reduction in cell numbers to 69% and 31% of wild-type in the vermis and hemispheres, respectively




Genotype
MGI:3767853
cx14
Allelic
Composition		 Ercc6tm1Gvh/Ercc6tm1Gvh
Xpatm1Hvs/Xpatm1Hvs
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc6tm1Gvh mutation (1 available); any Ercc6 mutation (78 available)
Xpatm1Hvs mutation (3 available); any Xpa mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Ercc6tm1Gvh/Ercc6tm1Gvh Xpatm1Hvs/Xpatm1Hvs mice display postnatal growth retardation

mortality/aging
perinatal lethality, incomplete penetrance ( J:122013 )
• number of double mutant pups is about 3-fold below the expected numbers, however normal numbers are seen at E18.5, indicating some lethality during or shortly after birth

growth/size/body
cachexia ( J:122013 )
• develop progressive cachexia in the third week of life
disproportionate dwarf ( J:122013 )
postnatal growth retardation ( J:122013 )

homeostasis/metabolism
abnormal base-excision repair ( J:122013 )
• analysis of UV-induced repair synthesis and RNA synthesis recovery show complete inactivation of nucleotide excision repair (NER)

cellular
increased cellular sensitivity to ultraviolet irradiation ( J:122013 )
• MEFs are more UV-sensitive than single Xpa mutants
abnormal base-excision repair ( J:122013 )
• analysis of UV-induced repair synthesis and RNA synthesis recovery show complete inactivation of nucleotide excision repair (NER)

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Cockayne syndrome DOID:2962 J:122013




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11/12/2024
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