All Phenotypes Ercc6l<tm1.2Ajlc> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Ercc6l^tm1.2Ajlc/Ercc6l⁺	involves: 129S2/SvPas * C57BL/6J * C57BL/6N * SJL/J	MGI:6283337
cx2	Ercc6l^tm1.2Ajlc/Y Trp53^tm1Tyj/Trp53⁺	involves: 129S2/SvPas * C57BL/6J * C57BL/6N * SJL/J	MGI:6283344
cx3	Ercc6l^tm1.2Ajlc/Y Trp53^tm1Tyj/Trp53^tm1Tyj	involves: 129S2/SvPas * C57BL/6J * C57BL/6N * SJL/J	MGI:6283343
cx4	Ercc6l^tm1.2Ajlc/Ercc6l⁺ Trp53^tm1Tyj/Trp53^tm1Tyj	involves: 129S2/SvPas * C57BL/6J * C57BL/6N * SJL/J	MGI:6283345
ot5	Ercc6l^tm1.2Ajlc/Y	involves: 129S2/SvPas * C57BL/6J * C57BL/6N * SJL/J	MGI:6283327

Allelic Composition	Ercc6l^tm1.2Ajlc/Ercc6l⁺
Genetic Background	involves: 129S2/SvPas * C57BL/6J * C57BL/6N * SJL/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc6l^tm1.2Ajlc mutation (0 available); any Ercc6l mutation (6 available)

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

mortality/aging

lethality during fetal growth through weaning, incomplete penetrance ( J:271028 )

• heterozygous females are obtained at sub-Mendelian ratios at 4 weeks of age, with ~20% dying either during the later stages of embryonic development or perinatally

• however, Mendelian ratios, embryo size and morphology are normal at E10.5, E11.5 and 12.5, and surviving females show normal appearance and body weight at ~1 year of age

reproductive system

female infertility ( J:271028 )

• two of the heterozygous females studied did not produce any viable pups

reduced female fertility ( J:271028 )

• most heterozygous females exhibit reduced fertility

decreased litter size ( J:271028 )

• heterozygous females mated with wild-type males produce fewer pups than wild-type females (4.6 +/- 2.3 versus 15.8 +/- 2.9) over a 14-week period

cellular

abnormal cell nucleus morphology ( J:271028 )

• MEFs obtained from E11.5 embryos show a mild but significant increase in the number of 53BP1 foci and micronuclei relative to wild-type MEFs

abnormal cell physiology ( J:271028 )

• MEFs are refractory to RAS^V12/E1A-induced transformation, giving rise to a smaller number of colonies than wild-type MEFs

decreased fibroblast proliferation ( J:271028 )

• in culture, MEFs obtained from E11.5 embryos proliferate at a slightly lower rate than wild-type MEFs

chromosomal instability ( J:271028 )

• MEFs obtained from E11.5 embryos show a mild but significant increase in the number of 53BP1 foci and micronuclei relative to wild-type MEFs

Allelic Composition	Ercc6l^tm1.2Ajlc/Y Trp53^tm1Tyj/Trp53⁺
Genetic Background	involves: 129S2/SvPas * C57BL/6J * C57BL/6N * SJL/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc6l^tm1.2Ajlc mutation (0 available); any Ercc6l mutation (6 available)
Trp53^tm1Tyj mutation (12 available); any Trp53 mutation (240 available)

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

mortality/aging

embryonic lethality, complete penetrance ( J:271028 )

• no viable mice are born

embryo

increased embryonic tissue cell apoptosis ( J:271028 )

• at E10.5, embryos show a significant increase in the number of apoptotic cells, as determined by IHC staining for cleaved caspase-3

cellular

increased embryonic tissue cell apoptosis ( J:271028 )

• at E10.5, embryos show a significant increase in the number of apoptotic cells, as determined by IHC staining for cleaved caspase-3

chromosomal instability ( J:271028 )

• at E10.5, embryos exhibit an increase in the proportion of gamma-H2AX-positive cells relative to wild-type embryos

Allelic Composition	Ercc6l^tm1.2Ajlc/Y Trp53^tm1Tyj/Trp53^tm1Tyj
Genetic Background	involves: 129S2/SvPas * C57BL/6J * C57BL/6N * SJL/J

Find Mice

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

mortality/aging

embryonic lethality, complete penetrance ( J:271028 )

• no viable mice are born, suggesting that p53-dependent apoptosis and senescence are unlikely to be the only drivers of embryonic lethality

embryo

increased embryonic tissue cell apoptosis ( J:271028 )

• at E10.5, embryos show a significant increase in the number of apoptotic cells, as determined by IHC staining for cleaved caspase-3

decreased embryo size ( J:271028 )

• embryos are smaller at E10.5

growth/size/body

decreased embryo size ( J:271028 )

• embryos are smaller at E10.5

cellular

increased embryonic tissue cell apoptosis ( J:271028 )

• at E10.5, embryos show a significant increase in the number of apoptotic cells, as determined by IHC staining for cleaved caspase-3

chromosomal instability ( J:271028 )

• at E10.5, embryos exhibit an increase in the proportion of gamma-H2AX-positive cells relative to wild-type embryos

Allelic Composition	Ercc6l^tm1.2Ajlc/Ercc6l⁺ Trp53^tm1Tyj/Trp53^tm1Tyj
Genetic Background	involves: 129S2/SvPas * C57BL/6J * C57BL/6N * SJL/J

Find Mice

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

mortality/aging

lethality during fetal growth through weaning, incomplete penetrance ( J:271028 )

• only one female is born out of 7 expected, indicating that the proportion of viable births is further reduced in a Trp53 null background

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:271028 )

• male embryos are obtained at a lower than expected frequency at E10.5, E11.5, E12.5, and E13.5

• most embryos lose viability at or before E13.5 and no males are born

embryo

increased embryonic tissue cell apoptosis ( J:271028 )

• at E10.5, embryos show a significant increase in the number of apoptotic cells, as determined by IHC staining for cleaved caspase-3

embryonic growth arrest ( J:271028 )

• male embryos show a general developmental arrest at E12.5 and E13.5

decreased embryo size ( J:271028 )

• male embryos are grossly normal but smaller at E10.5; embryo length reduction becomes more evident after E11.5

growth/size/body

decreased embryo size ( J:271028 )

• male embryos are grossly normal but smaller at E10.5; embryo length reduction becomes more evident after E11.5

nervous system

increased brain apoptosis ( J:271028 )

• at E10.5, embryos show a significant increase in the number of cleaved caspase-3-positive cells in the brain

cellular

abnormal cell nucleus morphology ( J:271028 )

• mouse embryonic fibroblasts (MEFs) obtained from E11.5 and E12.5 embryos exhibit increased levels of 53BP1 nuclear foci and micronucleus formation

polyploidy ( J:271028 )

• MEFs obtained from E11.5 and E12.5 embryos exhibit polyploidy

abnormal cell physiology ( J:271028 )

• MEFs are resistant to RAS^V12/E1A-induced transformation, as indicated by their inability to form colony colonies

abnormal cell cycle checkpoint function ( J:271028 )

• MEFs obtained from E11.5 and E12.5 embryos show a greater tendency to accumulate in the G2 cell-cycle phase relative to wild-type MEFs

increased embryonic tissue cell apoptosis ( J:271028 )

• at E10.5, embryos show a significant increase in the number of apoptotic cells, as determined by IHC staining for cleaved caspase-3

increased brain apoptosis ( J:271028 )

• at E10.5, embryos show a significant increase in the number of cleaved caspase-3-positive cells in the brain

decreased fibroblast proliferation ( J:271028 )

• in culture, MEFs obtained from E11.5 and E12.5 embryos proliferate at a lower rate than wild-type MEFs from passage one and stop proliferating after 4 passages

early cellular replicative senescence ( J:271028 )

• MEFs obtained from E11.5 and E12.5 embryos enter into a senescent state after only 3-4 passages in culture, as determined by senescence-associated beta-galactosidase staining

abnormal DNA replication ( J:271028 )

• at early passages, MEFs obtained from E11.5 and E12.5 embryos exhibit poor EdU incorporation, indicating a very limited replicative capacity

chromosomal instability ( J:271028 )

• at E10.5, embryos exhibit an increase in the proportion of gamma-H2AX-positive cells; DNA damage is detected in all embryonic tissues but is particularly evident in embryonic brain

• a high number of p53 positive cells is observed throughout the embryo at E10.5 and onward, indicating extensive p53 activation

• MEFs obtained from E11.5 and E12.5 embryos show phenotypes associated with genome instability, including increased levels of 53BP1 nuclear foci, micronucleus formation and polyploidy

homeostasis/metabolism

abnormal DNA replication ( J:271028 )

• at early passages, MEFs obtained from E11.5 and E12.5 embryos exhibit poor EdU incorporation, indicating a very limited replicative capacity

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24