All Phenotypes Ercc1<tm2Jhjh> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ercc1^tm2Jhjh/Ercc1^tm2Jhjh	involves: 129P2/OlaHsd * C57BL/6	MGI:3055854
hm2	Ercc1^tm2Jhjh/Ercc1^tm2Jhjh	involves: 129P2/OlaHsd * C57BL/6 * FVB/N	MGI:5553272
hm3	Ercc1^tm2Jhjh/Ercc1^tm2Jhjh	involves: 129P2/OlaHsd * FVB	MGI:3055864
ht4	Ercc1^tm1Jhjh/Ercc1^tm2Jhjh	involves: 129P2/OlaHsd * C57BL/6 * FVB/N	MGI:5553273
ht5	Ercc1^tm1Jhjh/Ercc1^tm2Jhjh	involves: 129P2/OlaHsd * C57BL/6J * FVB/N	MGI:6386114

♀	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

thin skin ( J:41161 )

Allelic Composition	Ercc1^tm2Jhjh/Ercc1^tm2Jhjh
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc1^tm2Jhjh 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 granulocyte monocyte progenitor cell number ( J:206925 )

• at 10 and 20 weeks

decreased erythroid progenitor cell number ( J:206925 )

• CFU-B at 3 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

decreased megakaryocyte-erythroid progenitor cell number ( J:206925 )

• 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

Allelic Composition	Ercc1^tm2Jhjh/Ercc1^tm2Jhjh
Genetic Background	involves: 129P2/OlaHsd * FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc1^tm2Jhjh 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 )

• 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

Allelic Composition	Ercc1^tm1Jhjh/Ercc1^tm2Jhjh
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc1^tm1Jhjh mutation (0 available); any Ercc1 mutation (27 available)
Ercc1^tm2Jhjh 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 granulocyte monocyte progenitor cell number ( J:206925 )

• at 10 and 20 weeks

decreased erythroid progenitor cell number ( J:206925 )

• CFU-B at 3 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

decreased megakaryocyte-erythroid progenitor cell number ( J:206925 )

• 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

Allelic Composition	Ercc1^tm1Jhjh/Ercc1^tm2Jhjh
Genetic Background	involves: 129P2/OlaHsd * C57BL/6J * FVB/N

Find Mice

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

hearing/vestibular/ear

cochlear hair cell degeneration ( J:280844 )

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

cochlear hair cell degeneration ( J:280844 )

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

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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