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Phenotypes Associated with This Genotype
Genotype
MGI:3714853
Allelic
Composition
Lig4tiny/Lig4tiny
Genetic
Background
C57BL/6-Lig4tiny
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lig4tiny mutation (4 available); any Lig4 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• born at 40% of the expected frequency

growth/size/body
• mice are small in size

immune system
• reduced numbers of lymphocytes in the peripheral blood
• B cells are reduced in number
• mice have no CD8+ cells
• however, a TCR transgene rescues T cells
• mice exhibit phenotypes similar to human SCID

hematopoietic system
• age related decline in bone marrow cellularity
• age related decline in erythrocyte precursors in the bone marrow
• reduced numbers of lymphocytes in the peripheral blood
• B cells are reduced in number
• mice have no CD8+ cells
• however, a TCR transgene rescues T cells
• mice exhibit phenotypes similar to human SCID
• decreased numbers of multipotent progenitors but a preservation of long-term hematopoetic stem cells

cellular
• reduced ability to repair DNA damage from gamma radiation in MEFs
• reduced repair of damage caused by reactive oxygen species
• 10 fold reduction of DNA ligase function
• of embryonic fibroblasts

homeostasis/metabolism
• reduced ability to repair DNA damage from gamma radiation in MEFs
• reduced repair of damage caused by reactive oxygen species
• 10 fold reduction of DNA ligase function

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
DNA ligase IV deficiency DOID:0060021 OMIM:606593
J:122725


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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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory