Phenotypes Associated with This Genotype

Genotype
MGI:3714853

• Allelic Composition: Lig4^tiny/Lig4^tiny
• Genetic Background: C57BL/6-Lig4^tiny

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:122725 )

• born at 40% of the expected frequency

growth/size/body

decreased body size ( J:122725 )

• mice are small in size

postnatal growth retardation ( J:122725 )

immune system

decreased lymphocyte cell number ( J:122725 )

• reduced numbers of lymphocytes in the peripheral blood

decreased B cell number ( J:122725 )

• B cells are reduced in number

absent CD8-positive, alpha-beta T cells ( J:104190 )

• mice have no CD8+ cells

• however, a TCR transgene rescues T cells

• mice exhibit phenotypes similar to human SCID

hematopoietic system

decreased bone marrow cell number ( J:122725 )

• age related decline in bone marrow cellularity

abnormal proerythroblast morphology ( J:122725 )

• age related decline in erythrocyte precursors in the bone marrow

decreased lymphocyte cell number ( J:122725 )

• reduced numbers of lymphocytes in the peripheral blood

decreased B cell number ( J:122725 )

• B cells are reduced in number

absent CD8-positive, alpha-beta T cells ( J:104190 )

• mice have no CD8+ cells

• however, a TCR transgene rescues T cells

• mice exhibit phenotypes similar to human SCID

decreased hematopoietic stem cell number ( J:122725 )

• decreased numbers of multipotent progenitors but a preservation of long-term hematopoetic stem cells

cellular

decreased fibroblast proliferation ( J:122725 )

• of embryonic fibroblasts

abnormal DNA repair ( J:122725 )

• 10 fold reduction of DNA ligase function

• reduced ability to repair DNA damage from gamma radiation in MEFs

• reduced repair of damage caused by reactive oxygen species

homeostasis/metabolism

abnormal DNA repair ( J:122725 )

• 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