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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Ercc1tm1Jhjh
targeted mutation 1, Jan H J Hoeijmakers
MGI:2183944
Summary 7 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Ercc1tm1Jhjh/Ercc1tm1Jhjh either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB) MGI:3055851
hm2
 		Ercc1tm1Jhjh/Ercc1tm1Jhjh involves: 129P2/OlaHsd * C57BL/6 * FVB MGI:3804449
hm3
 		Ercc1tm1Jhjh/Ercc1tm1Jhjh involves: 129P2/OlaHsd * C57BL/6 * FVB/N MGI:5553271
hm4
 		Ercc1tm1Jhjh/Ercc1tm1Jhjh involves: C57BL/6 * FVB/N MGI:3055853
ht5
 		Ercc1tm1Jhjh/Ercc1tm2Jhjh involves: 129P2/OlaHsd * C57BL/6 * FVB/N MGI:5553273
ht6
 		Ercc1tm1Jhjh/Ercc1tm2Jhjh involves: 129P2/OlaHsd * C57BL/6J * FVB/N MGI:6386114
cn7
 		Ercc1tm1Jhjh/Ercc1tm3Jhjh
Tg(Tek-cre)12Flv/0 		involves: 129P2/OlaHsd * C3H * C57BL/6 * FVB/N MGI:5553270


Genotype
MGI:3055851
hm1
Allelic
Composition		 Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic
Background		 either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc1tm1Jhjh mutation (0 available); any Ercc1 mutation (27 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:41161 )
• mutants do not live beyond 38 days of age

growth/size/body
embryonic growth retardation ( J:41161 )
• on a mixed 129P2/OlaHsd and C57BL/6 background embryonic growth delay is seen
decreased body size ( J:41161 )
• homozygotes are severely runted

embryo
embryonic growth retardation ( J:41161 )
• on a mixed 129P2/OlaHsd and C57BL/6 background embryonic growth delay is seen




Genotype
MGI:3804449
hm2
Allelic
Composition		 Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc1tm1Jhjh mutation (0 available); any Ercc1 mutation (27 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality, incomplete penetrance ( J:117488 )
• most die by four weeks after birth

growth/size/body
embryonic growth retardation ( J:117488 )
• mildly retarded
abnormal postnatal growth ( J:117488 )
• growth arrests in the second week of life
postnatal growth retardation ( J:117488 )
• mildly retarded
fetal growth retardation ( J:117488 )
• mildly retarded

embryo
embryonic growth retardation ( J:117488 )
• mildly retarded

cellular
increased cellular sensitivity to oxidative stress ( J:117488 )
• mutant ES cells and MEFs are mildly, but significantly, hypersensitive to oxidative damage compared to wild-type
increased hepatocyte apoptosis ( J:117488 )
• apoptotic cells are increased in mutant liver compared to age-matched controls
decreased cell proliferation ( J:117488 )
• cellular proliferation is decreased compared to age matched controls
decreased hepatocyte proliferation ( J:117488 )
• senescent, polyploid hepatocytes are prominent in mutants but not age-matched controls
early cellular replicative senescence ( J:117488 )
• MEFS exhibit premature replicative senescence

behavior/neurological
ataxia ( J:117488 )
• progressive ataxia

homeostasis/metabolism
increased liver triglyceride level ( J:117488 )
• triglyceride accumulation is observed in the liver in young mutants as is seen in older controls

liver/biliary system
increased hepatocyte apoptosis ( J:117488 )
• apoptotic cells are increased in mutant liver compared to age-matched controls
decreased hepatocyte proliferation ( J:117488 )
• senescent, polyploid hepatocytes are prominent in mutants but not age-matched controls
increased liver triglyceride level ( J:117488 )
• triglyceride accumulation is observed in the liver in young mutants as is seen in older controls
hepatic steatosis ( J:117488 )
• progressive steatosis

muscle

renal/urinary system
abnormal kidney physiology ( J:117488 )
• renal insufficiency

skeleton

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
XFE progeroid syndrome DOID:0060590 OMIM:610965
 J:117488




Genotype
MGI:5553271
hm3
Allelic
Composition		 Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc1tm1Jhjh mutation (0 available); any Ercc1 mutation (27 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:206925 )
• mice die between 3 and 4 weeks of age

hematopoietic system
decreased granulocyte monocyte progenitor cell number ( J:206925 )
• decreased colony forming unit-granulocyte (CFU-G) and granulocyte-macrophage (CFU-GM) at 3 weeks
decreased hematopoietic stem cell number ( J:206925 )
• decreased total LSK+ cells at 3 weeks

liver/biliary system
abnormal hepatocyte morphology ( J:206925 )
• cells with enlarged nuclei in the liver

growth/size/body
decreased body size ( J:206925 )
decreased body weight ( J:206925 )
• at 3 weeks




Genotype
MGI:3055853
hm4
Allelic
Composition		 Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic
Background		 involves: C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc1tm1Jhjh mutation (0 available); any Ercc1 mutation (27 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
lethality at weaning, complete penetrance ( J:92471 )
• mutants die around 3 weeks of age from liver failure

hematopoietic system
decreased B cell proliferation ( J:92471 )
• B cell proliferation is reduced to 76% wild-type
abnormal class switch recombination ( J:92471 )
• class switching recombination for IgG1, IgG2a, IgG2b, IgG3, and IgA is reduced 20-55%
• the mutation spectra and location are altered in GL Smu segments
spleen hypoplasia ( J:92471 )
• at P19-21 spleen contain 10-fold fewer cells

immune system
decreased B cell proliferation ( J:92471 )
• B cell proliferation is reduced to 76% wild-type
abnormal class switch recombination ( J:92471 )
• class switching recombination for IgG1, IgG2a, IgG2b, IgG3, and IgA is reduced 20-55%
• the mutation spectra and location are altered in GL Smu segments
spleen hypoplasia ( J:92471 )
• at P19-21 spleen contain 10-fold fewer cells

liver/biliary system
abnormal liver physiology ( J:92471 )
• liver failure is seen

cellular
decreased B cell proliferation ( J:92471 )
• B cell proliferation is reduced to 76% wild-type




Genotype
MGI:5553273
ht5
Allelic
Composition		 Ercc1tm1Jhjh/Ercc1tm2Jhjh
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc1tm1Jhjh mutation (0 available); any Ercc1 mutation (27 available)
Ercc1tm2Jhjh mutation (0 available); any Ercc1 mutation (27 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
decreased common myeloid progenitor cell number ( J:206925 )
• at 3, 10 and 20 weeks
• decreased colony forming unit-granulocyte (CFU-G) and granulocyte-macrophage (CFU-GM) at 3, 10 and 20 weeks
decreased hematopoietic stem cell number ( J:206925 )
• decreased total LSK+ cells with a 3-fold decrease in the fraction of multipotent progenitors (MPP) but an increase in the fraction of long term hematopoietic stem cells (HSCs) at 3 weeks; increased fraction of short term HSCs but a decrease in MPP at 10 and 20 weeks

liver/biliary system
abnormal hepatocyte morphology ( J:206925 )
• cells with enlarged nuclei in the liver

growth/size/body
decreased body weight ( J:206925 )
• at 3, 10 and 20 weeks of age




Genotype
MGI:6386114
ht6
Allelic
Composition		 Ercc1tm1Jhjh/Ercc1tm2Jhjh
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc1tm1Jhjh mutation (0 available); any Ercc1 mutation (27 available)
Ercc1tm2Jhjh mutation (0 available); any Ercc1 mutation (27 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
increased or absent threshold for auditory brainstem response ( J:280844 )
• at 5 weeks of age with further deterioration at 9 weeks at 8 and 16, but not 4, kHz
abnormal distortion product otoacoustic emission ( J:280844 )
• reduced at 12, but not 4, weeks
impaired hearing ( J:280844 )
• progressive

vision/eye
increased retina apoptosis ( J:280844 )
• in the outer nuclear layer at 4, 9, 18 and 25 weeks
thin retina outer nuclear layer ( J:280844 )
• progressive starting at 25 weeks

nervous system

behavior/neurological
abnormal optokinetic reflex ( J:280844 )
• progressive reduction at 10 and 14 weeks
• smaller saccades at all ages
• however, the main sequence is normal

cellular
increased retina apoptosis ( J:280844 )
• in the outer nuclear layer at 4, 9, 18 and 25 weeks




Genotype
MGI:5553270
cn7
Allelic
Composition		 Ercc1tm1Jhjh/Ercc1tm3Jhjh
Tg(Tek-cre)12Flv/0
Genetic
Background		 involves: 129P2/OlaHsd * C3H * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc1tm1Jhjh mutation (0 available); any Ercc1 mutation (27 available)
Ercc1tm3Jhjh mutation (0 available); any Ercc1 mutation (27 available)
Tg(Tek-cre)12Flv mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
hematopoietic system phenotype ( J:206925 )
N
• mice exhibit normal blood cell parameters and colony-forming progenitors in the bone marrow




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Send questions and comments to User Support. 		last database update
04/30/2024
MGI 6.23 		The Jackson Laboratory