Phenotypes Associated with This Genotype

Genotype
MGI:3839954

hm1

• Allelic Composition: Lig4^tm1Fwa/Lig4^tm1Fwa
• Genetic Background: involves: 129S6/SvEvTac

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

nervous system

increased forebrain apoptosis ( J:110848 )

• at E12.5, mice exhibit increased apoptotic cells in the developing cerebral cortex and diencephalon compared to in wild-type mice

increased spinal cord apoptosis ( J:110848 )

• at E12.5, mice exhibit increased apoptotic cells in the spinal cord compared to in wild-type mice

abnormal brainstem morphology ( J:110848 )

• large cavities

abnormal striatum morphology ( J:110848 )

• large cavities

abnormal diencephalon morphology ( J:110848 )

• large cavities

thin cerebral cortex ( J:110848 )

• at E12.5, mice exhibit increased apoptotic cells in the developing cerebral cortex compared to in wild-type mice

• apoptosis in the cerebral cortex is more severe than in Xrcc6^tm1Fwa

cellular

abnormal cell physiology ( J:110848 )

• mouse embryonic fibroblasts fail to produce RS joining in a transient V(D)J recombination end joining assay unlike wild-type cells

increased cellular sensitivity to ionizing radiation ( J:147247 )

• cre-treated mouse embryonic fibroblasts exhibit increased cellular sensitivity to ionizing radiation compared to wild-type and Mre11a deficient cells

increased forebrain apoptosis ( J:110848 )

• at E12.5, mice exhibit increased apoptotic cells in the developing cerebral cortex and diencephalon compared to in wild-type mice

increased spinal cord apoptosis ( J:110848 )

• at E12.5, mice exhibit increased apoptotic cells in the spinal cord compared to in wild-type mice

chromosomal instability ( J:147247 )

• mouse embryonic fibroblasts (MEFs) exhibit chromosome fragments with few gaps or breaks within single chromatids

• MEFs exhibit less chromosomal instability than in Mre11a deficient MEFs

• following exposure to gamma radiation, cre-exposed MEFs fail to exhibit a downward trend in frequency of chromosomal anomalies unlike similarly treated wild-type cells

induced chromosome breakage ( J:147247 )

• cre-treated mouse embryonic fibroblasts exhibit hypersensitivity to aphidicolin compared to similarly treated wild-type cells