Phenotypes associated with this allele

• Allele Symbol: Xrcc2^tm1Jtk
• Allele Name: targeted mutation 1, John Thacker
• Allele ID: MGI:2662686
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Xrcc2^tm1Jtk/Xrcc2^tm1Jtk	involves: 129S/SvEv * C57BL/6	MGI:2662688

Genotype
MGI:2662688

hm1

• Allelic Composition: Xrcc2^tm1Jtk/Xrcc2^tm1Jtk
• Genetic Background: involves: 129S/SvEv * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:66529 )

• mutant embryos surviving to term die within 20 minutes after birth

embryonic lethality during organogenesis, incomplete penetrance ( J:66529 )

• most mutant embryos die between E10.5-E12.5, with survival reduced at E12.5 to about 30% of that expected

craniofacial

abnormal craniofacial morphology ( J:66529 )

• cranial defects

embryo

increased embryonic tissue cell apoptosis ( J:66529 )

• an increase in apoptosis is observed throughout embryonic tissues at E9.5 and is highest in caudal and dorsal regions and developing areas of the brain

abnormal developmental patterning ( J:66529 )

• dorsal truncation

embryonic growth retardation ( J:66529 )

• occurs after E8.5

decreased embryo size ( J:66529 )

• smaller at E9.5

abnormal neural tube closure ( J:66529 )

• incomplete neural tube closure

limbs/digits/tail

short tail ( J:66529 )

• stunted tail

respiratory system

abnormal pulmonary alveolus morphology ( J:66529 )

• pups exhibit a reduction in alveolar volume, indicating a failure to inflate with air

respiratory failure ( J:66529 )

growth/size/body

embryonic growth retardation ( J:66529 )

• occurs after E8.5

decreased embryo size ( J:66529 )

• smaller at E9.5

nervous system

increased neuron apoptosis ( J:66529 )

• increase in apoptosis in early post-mitotic neurons at E12.5

abnormal neural tube closure ( J:66529 )

• incomplete neural tube closure

thin cortical plate ( J:66529 )

• thickness of the cortical plate is reduced at E14.5-16.5

exencephaly ( J:66529 )

homeostasis/metabolism

cyanosis ( J:66529 )

cellular

increased cellular sensitivity to gamma-irradiation ( J:66529 )

• cultured blastocysts are hypersensitive to gamma radiation, showing reduced inner cell mass outgrowth than controls after irradiation

increased apoptosis ( J:66529 )

• at E11.5, extensive cell death is seen in the central and peripheral nervous system

increased embryonic tissue cell apoptosis ( J:66529 )

• an increase in apoptosis is observed throughout embryonic tissues at E9.5 and is highest in caudal and dorsal regions and developing areas of the brain

increased neuron apoptosis ( J:66529 )

• increase in apoptosis in early post-mitotic neurons at E12.5

chromosomal instability ( J:66529 )

• high frequency of breaks and exchanges; majority of aberrations involve chromatids