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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Ercc1tm2Jhjh
targeted mutation 2, Jan H J Hoeijmakers
MGI:2183945
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Ercc1tm2Jhjh/Ercc1tm2Jhjh involves: 129P2/OlaHsd * C57BL/6 MGI:3055854
hm2
 		Ercc1tm2Jhjh/Ercc1tm2Jhjh involves: 129P2/OlaHsd * C57BL/6 * FVB/N MGI:5553272
hm3
 		Ercc1tm2Jhjh/Ercc1tm2Jhjh involves: 129P2/OlaHsd * FVB MGI:3055864
ht4
 		Ercc1tm1Jhjh/Ercc1tm2Jhjh involves: 129P2/OlaHsd * C57BL/6 * FVB/N MGI:5553273
ht5
 		Ercc1tm1Jhjh/Ercc1tm2Jhjh involves: 129P2/OlaHsd * C57BL/6J * FVB/N MGI:6386114


Genotype
MGI:3055854
hm1
Allelic
Composition		 Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc1tm2Jhjh mutation (0 available); any Ercc1 mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
increased susceptibility to xenobiotic induced morbidity/mortality ( J:41161 )
• DMBA exposure induces death by 3 days post exposure unlike wild-type littermates
premature death ( J:41161 )
• Background Sensitivity: mutants live about 6 months on a mixed 129P2/OlaHsd/C57BL/6 background, however life spans are shorter on a mixed 129P2/OlaHsd/FVB background
embryonic lethality during organogenesis, incomplete penetrance ( J:41161 )
• many embryos die by E13.5
• Background Sensitivity: embryonic lethality is not seen on a mixed 129P2/OlaHsd and FVB background

adipose tissue
decreased subcutaneous adipose tissue amount ( J:41161 )
• subcutaneous fat is absent

cellular
decreased cell proliferation ( J:41161 )
• primary MEFs proliferate more slowly and stop growing sooner compared to wild-type MEFs

growth/size/body
decreased body size ( J:41161 )
• homozygotes are severely runted
• on a mixed 129P2/OlasHsd/C57BL/6 background males are more severely runted than females, this difference is not seen on a mixed 129P2/OlaHsd/FVB background

hematopoietic system
abnormal spleen morphology ( J:41161 )
• increased and early ferritin deposition is seen without evidence of haemochromatosis

homeostasis/metabolism
increased susceptibility to xenobiotic induced morbidity/mortality ( J:41161 )
• DMBA exposure induces death by 3 days post exposure unlike wild-type littermates
increased physiological sensitivity to xenobiotic ( J:41161 )
• DMBA exposure induces massive epidermal necrosis with minimal leukocyte infiltration unlike wild-type littermates

immune system
abnormal spleen morphology ( J:41161 )
• increased and early ferritin deposition is seen without evidence of haemochromatosis

liver/biliary system
abnormal hepatocyte morphology ( J:41161 )
• nuclear abnormalities are seen in the liver

renal/urinary system
dilated renal tubule ( J:41161 )
• dilated tubules containing leaked proteinaceous material are seen

reproductive system
infertility ( J:41161 )
• homozygotes that reach the age of 6 months are infertile

integument
decreased subcutaneous adipose tissue amount ( J:41161 )
• subcutaneous fat is absent




Genotype
MGI:5553272
hm2
Allelic
Composition		 Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc1tm2Jhjh mutation (0 available); any Ercc1 mutation (28 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 and an increase in the fraction of long term hematopoietic stem cells at 3 weeks; increase in long term and short term HSCs but decreased in MPP at 10 weeks; increased fraction of short term HSCs but a decrease in MPP at 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:3055864
hm3
Allelic
Composition		 Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic
Background		 involves: 129P2/OlaHsd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc1tm2Jhjh mutation (0 available); any Ercc1 mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:41161 )
• maximal age seen is 78 days on a mixed 129P2/OlaHsd/FVB background, however life spans are longer on a mixed 129P2/OlaHsd/C57BL/6 background
• embryonic lethality is not seen on a mixed 129P2/OlaHsd/FVB background unlike on a mixed 129P2/OlaHsd/C57BL/6 background

growth/size/body
decreased body size ( J:41161 )
• homozygotes are severely runted
• on a mixed 129p2/OlaHsd/C57BL/6 background males are more severely runted than females, this difference is not seen on a mixed 129P2/OlaHsd/FVB background




Genotype
MGI:5553273
ht4
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 (28 available)
Ercc1tm2Jhjh mutation (0 available); any Ercc1 mutation (28 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
ht5
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 (28 available)
Ercc1tm2Jhjh mutation (0 available); any Ercc1 mutation (28 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




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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
12/17/2024
MGI 6.24 		The Jackson Laboratory