Phenotypes Associated with This Genotype

Genotype
MGI:3809933

• Allelic Composition: Xrcc4^tm1Fwa/Xrcc4^tm1Fwa
• Genetic Background: involves: 129P2/OlaHsd

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

cellular

abnormal cell physiology ( J:110848 )

• mouse embryonic fibroblasts exhibit aberrant RS joining in a transient V(D)J recombination end joining assay compared with wild-type cells

increased cellular sensitivity to gamma-irradiation ( J:120145 )

• ES cells are very sensitive to irradiation as determined by colony survival assay with greater than 10-fold less survival at a dose of 400 rads

increased neuron apoptosis ( J:110848 )

abnormal DNA repair ( J:120145 )

• 18 hours after 80 Gy of gamma-irradiation, significant amounts of genomic DNA leak out of these ES cells during pulse-field electrophoresis while wild-type ES cells are able retain their genomic material

spontaneous chromosome breakage ( J:120145 )

• untreated ES cells have a high incidence of chromosomal breaks and translocations

• almost 15% of cells exhibit abnormal metaphases with most of these abnormalities resulting from chromosome breaks

• the incidence of chromosome breakages is significantly higher than in wild-type ES cells and is twice that of Nhej1^tm1Fwa homozygotes

homeostasis/metabolism

abnormal DNA repair ( J:120145 )

• 18 hours after 80 Gy of gamma-irradiation, significant amounts of genomic DNA leak out of these ES cells during pulse-field electrophoresis while wild-type ES cells are able retain their genomic material

nervous system

increased neuron apoptosis ( J:110848 )

thin cerebral cortex ( J:110848 )