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

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