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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Xpatm1Gvh
targeted mutation 1, Gijsbertus T J van der Horst
MGI:5312129
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
 		Xpatm1Gvh/Xpatm1Hvs involves: 129P2/OlaHsd * C57BL/6J MGI:5312288
cn2
 		Ercc6tm1Gvh/Ercc6tm1Gvh
Xpatm1Gvh/Xpatm1Hvs
Tg(Pcp2-cre)2Mpin/0 		involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:5312301
cn3
 		Xpatm1Gvh/Xpatm1Hvs
Tg(CAG-cre)13Miya/0 		involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J MGI:5312289
cn4
 		Ercc6tm1Gvh/Ercc6tm1Gvh
Xpatm1Gvh/Xpatm1Hvs
Tg(CAG-cre)13Miya/0 		involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J MGI:5312296
cn5
 		Ercc6tm1Gvh/Ercc6tm1Gvh
Xpatm1Gvh/Xpatm1Hvs
Tg(Camk2a-cre)1Szi/0 		involves: 129P2/OlaHsd * C57BL/6J * CBA MGI:5312300


Genotype
MGI:5312288
ht1
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
cn2
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
cn3
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
cn4
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
cn5
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




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory