Phenotypes associated with this allele

• Allele Symbol: Lig1^tm1Dwm
• Allele Name: targeted mutation 1, David W Melton
• Allele ID: MGI:2179227
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lig1^tm1Dwm/Lig1^tm1Dwm	involves: 129P2/OlaHsd	MGI:3843626
hm2	Lig1^tm1Dwm/Lig1^tm1Dwm	involves: 129P2/OlaHsd * BALB/c	MGI:3843612

Genotype
MGI:3843626

hm1

• Allelic Composition: Lig1^tm1Dwm/Lig1^tm1Dwm
• Genetic Background: involves: 129P2/OlaHsd

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

cellular

cellular phenotype ( J:75962 )

N • fibroblasts exhibit normal nucleotide excision repair, repair of alkylation damage, sensitivity to 3-aminobenzamide, repair of ionizing radiation damage, and sister chromatid exchange rates

decreased fibroblast proliferation ( J:75962 )

• cultured fibroblasts grow more slowly than wild-type cells

abnormal DNA replication ( J:75962 )

• fibroblasts accumulate replication intermediates unlike in wild-type cells

chromosomal instability ( J:75962 )

• fibroblasts exhibit increased chromosomal instability compared to wild-type cells

hematopoietic system

enlarged spleen ( J:75962 )

• when fetal liver cells are used to rescue lethally irradiated mice

abnormal definitive hematopoiesis ( J:75962 )

• when fetal liver cells are used to rescue lethally irradiated mice, fetal liver cells contribute to all lineages but in lower numbers than when wild-type cells are used to rescue lethally irradiated mice

anemia ( J:75962 )

• when fetal liver cells are used to rescue lethally irradiated mice

increased bone marrow cell number ( J:75962 )

• when fetal liver cells are used to rescue lethally irradiated mice

decreased hematocrit ( J:75962 )

• when fetal liver cells are used to rescue lethally irradiated mice

macrocytosis ( J:75962 )

• when fetal liver cells are used to rescue lethally irradiated mice

reticulocytosis ( J:75962 )

• when fetal liver cells are used to rescue lethally irradiated mice

homeostasis/metabolism

abnormal DNA replication ( J:75962 )

• fibroblasts accumulate replication intermediates unlike in wild-type cells

immune system

enlarged spleen ( J:75962 )

• when fetal liver cells are used to rescue lethally irradiated mice

growth/size/body

enlarged spleen ( J:75962 )

• when fetal liver cells are used to rescue lethally irradiated mice

Genotype
MGI:3843612

hm2

• Allelic Composition: Lig1^tm1Dwm/Lig1^tm1Dwm
• Genetic Background: involves: 129P2/OlaHsd * BALB/c

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:76371 )

• although mice are present at E15.5, no mice are alive at E16.5

hematopoietic system

abnormal blood cell morphology/development ( J:76371 )

• at E15.5, the total number of circulating blood cells is 5% of that in wild-type mice

• the number of primitive multipotent (CFU-A) and erythroid (BFU-E) progenitors in the liver are decreased compared to in wild-type mice

• liver suspensions are unable to rescue lethally irradiated mice

abnormal erythropoiesis ( J:76371 )

• liver erythropoiesis is disrupted

• however, yolk sac erythropoiesis is normal

anemia ( J:76371 )

• at E15.5

decreased erythroid progenitor cell number ( J:76371 )

• the number of erythroid (BFU-E) progenitors in the liver are decreased compared to in wild-type mice

absent erythrocytes ( J:76371 )

• at E15.5, mice lack mature enucleated erythrocytes

anisocytosis ( J:76371 )

poikilocytosis ( J:76371 )

embryo

embryonic growth retardation ( J:76371 )

• at E10.5

decreased embryo size ( J:76371 )

• at E11.5

liver/biliary system

abnormal liver development ( J:76371 )

• at E15.5, livers lack erythropoietic islands and lack extensive cellularization compared with wild-type livers

• however, hepatocytes and megakaryocytes appear normal

small liver ( J:76371 )

liver hypoplasia ( J:76371 )

• fewer erythroid hematopoietic cells are found within the liver compared to in wild-type mice

• however, the number of non-erythoid hematopoeitic cells is normal

growth/size/body

embryonic growth retardation ( J:76371 )

• at E10.5

decreased embryo size ( J:76371 )

• at E11.5

integument

pallor ( J:76371 )

• embryos are pale at E11.5