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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Xrcc5tm1Dbr
targeted mutation 1, David B Roth
MGI:2179987
Summary 9 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Xrcc5tm1Dbr/Xrcc5tm1Dbr involves: 129S1/Sv * C57BL/6 MGI:3639043
hm2
 		Xrcc5tm1Dbr/Xrcc5tm1Dbr involves: 129S6/SvEvTac * C57BL/6 MGI:3655990
hm3
 		Xrcc5tm1Dbr/Xrcc5tm1Dbr Not Specified MGI:5013937
ht4
 		Xrcc5tm1Dbr/Xrcc5+ involves: 129S6/SvEvTac * C57BL/6 MGI:3655989
cx5
 		Xrcc5tm1Dbr/Xrcc5+
Lig4tm1Fwa/Lig4+ 		involves: 129S6/SvEvTac * C57BL/6 MGI:3655987
cx6
 		Xrcc5tm1Dbr/Xrcc5tm1Dbr
Lig4tm1Fwa/Lig4tm1Fwa 		involves: 129S6/SvEvTac * C57BL/6 MGI:3655986
cx7
 		Rag1tm1Mom/Rag1tm1Mom
Xrcc5tm1Dbr/Xrcc5tm1Dbr 		involves: 129S7/SvEvBrd * C57BL MGI:3818750
cx8
 		Trp53tm1Brd/Trp53tm1Brd
Xrcc5tm1Dbr/Xrcc5tm1Dbr 		involves: 129S7/SvEvBrd * C57BL MGI:3818751
cx9
 		Rag1tm1Mom/Rag1tm1Mom
Trp53tm1Brd/Trp53tm1Brd
Xrcc5tm1Dbr/Xrcc5tm1Dbr 		involves: 129S7/SvEvBrd * C57BL MGI:3818748


Genotype
MGI:3639043
hm1
Allelic
Composition		 Xrcc5tm1Dbr/Xrcc5tm1Dbr
Genetic
Background		 involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Xrcc5tm1Dbr mutation (0 available); any Xrcc5 mutation (71 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
thymus hypoplasia ( J:34834 )
• mice have a profoundly hypocellular thymus with 50- 170-fold fewer cells than controls
abnormal B cell differentiation ( J:34834 )
• mice display defective coding joint formation; Ig heavy chain rearrangements are decreased by ~10-fold compared to wild-type
• mice display defective signal joint formation
arrested B cell differentiation ( J:34834 )
• B cells development is arrested at at the pro-B cell stage
increased double-negative T cell number ( J:34834 )
• over 90% of thymocytes are double-negative compared to only 5-10% of wild-type
arrested T cell differentiation ( J:34834 )
• thymocytes from 10 week-old mice are arrested at the CD4-CD8-CD25+ stage
absent T cells ( J:34834 )
• no mature T cells are detected in mutants
lymph node hypoplasia ( J:34834 )
• lymph nodes are hypocellular and difficult to recover

hematopoietic system
thymus hypoplasia ( J:34834 )
• mice have a profoundly hypocellular thymus with 50- 170-fold fewer cells than controls
abnormal B cell differentiation ( J:34834 )
• mice display defective coding joint formation; Ig heavy chain rearrangements are decreased by ~10-fold compared to wild-type
• mice display defective signal joint formation
arrested B cell differentiation ( J:34834 )
• B cells development is arrested at at the pro-B cell stage
increased double-negative T cell number ( J:34834 )
• over 90% of thymocytes are double-negative compared to only 5-10% of wild-type
arrested T cell differentiation ( J:34834 )
• thymocytes from 10 week-old mice are arrested at the CD4-CD8-CD25+ stage
absent T cells ( J:34834 )
• no mature T cells are detected in mutants

vision/eye
increased retina apoptosis ( J:86825 )
• embryonic mice show increased (~5-fold) retinal apoptosis compared to wild-type
abnormal retina morphology ( J:86825 )
• number of neuronal retinal nuclei is decreased compare to wild-type when quantified between 2 and 8 months of age

cellular
increased retina apoptosis ( J:86825 )
• embryonic mice show increased (~5-fold) retinal apoptosis compared to wild-type

endocrine/exocrine glands
thymus hypoplasia ( J:34834 )
• mice have a profoundly hypocellular thymus with 50- 170-fold fewer cells than controls




Genotype
MGI:3655990
hm2
Allelic
Composition		 Xrcc5tm1Dbr/Xrcc5tm1Dbr
Genetic
Background		 involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Xrcc5tm1Dbr mutation (0 available); any Xrcc5 mutation (71 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
mortality/aging ( J:80467 )
N
• a small number of Lig4+/+, Xrcc5tm1Dbr null animals (4/131) have reached maturity and are viable; this is equivalent to observed viability of Xrcc5-null animals
prenatal lethality, incomplete penetrance ( J:80467 )
• some Lig4 +/+/Xrcc5-null animals have been live born compared to total lethality of Lig4 single null animals

cellular
chromosome breakage ( J:80467 )
• numbers of cultured cells show a higher percentage of chromosome aberrations than wild-type cells (~60% vs ~10%)




Genotype
MGI:5013937
hm3
Allelic
Composition		 Xrcc5tm1Dbr/Xrcc5tm1Dbr
Genetic
Background		 Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Xrcc5tm1Dbr mutation (0 available); any Xrcc5 mutation (71 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
increased neuron apoptosis ( J:110848 )
• in the spinal cord at E12.5

cellular
increased neuron apoptosis ( J:110848 )
• in the spinal cord at E12.5




Genotype
MGI:3655989
ht4
Allelic
Composition		 Xrcc5tm1Dbr/Xrcc5+
Genetic
Background		 involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Xrcc5tm1Dbr mutation (0 available); any Xrcc5 mutation (71 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
chromosome breakage ( J:80467 )
• ~20% of heterozygous cells in culture exhibit chromosomal instability




Genotype
MGI:3655987
cx5
Allelic
Composition		 Xrcc5tm1Dbr/Xrcc5+
Lig4tm1Fwa/Lig4+
Genetic
Background		 involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lig4tm1Fwa mutation (2 available); any Lig4 mutation (46 available)
Xrcc5tm1Dbr mutation (0 available); any Xrcc5 mutation (71 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
chromosome breakage ( J:80467 )
• cultured fibroblasts display chromosomal instability at a level of ~32%, similar to heterozygous Lig4 fibroblasts




Genotype
MGI:3655986
cx6
Allelic
Composition		 Xrcc5tm1Dbr/Xrcc5tm1Dbr
Lig4tm1Fwa/Lig4tm1Fwa
Genetic
Background		 involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lig4tm1Fwa mutation (2 available); any Lig4 mutation (46 available)
Xrcc5tm1Dbr mutation (0 available); any Xrcc5 mutation (71 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
mortality/aging ( J:80467 )
N
• a small number of tm1Fwa, Xrcc5tm1Dbr null animals (4/131) have reached maturity and are viable; this is equivalent to observed viability of Xrcc5-null animals
prenatal lethality, incomplete penetrance ( J:80467 )
• 4/131 Lig4/Xrcc5 double null animals have been live born compared to total lethality of Lig4 single null animals

immune system
abnormal lymphocyte morphology ( J:80467 )
• double mutants show lymphoid depletion similar to that observed in Xrcc5-deficient mice

hematopoietic system
abnormal lymphocyte morphology ( J:80467 )
• double mutants show lymphoid depletion similar to that observed in Xrcc5-deficient mice

digestive/alimentary system
abnormal small intestine morphology ( J:80467 )
• small intestines show smaller villi relative to wild-type and Xrcc5-deficient mice

cellular
chromosome breakage ( J:80467 )
• numbers of cultured cells show similar total percentage of chromosome aberrations to Xrcc4-deficient cells (~60% vs ~10% of wild-type cells)




Genotype
MGI:3818750
cx7
Allelic
Composition		 Rag1tm1Mom/Rag1tm1Mom
Xrcc5tm1Dbr/Xrcc5tm1Dbr
Genetic
Background		 involves: 129S7/SvEvBrd * C57BL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rag1tm1Mom mutation (49 available); any Rag1 mutation (123 available)
Xrcc5tm1Dbr mutation (0 available); any Xrcc5 mutation (71 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
increased cerebellar granule cell number ( J:141515 )
• mice exhibit a focal increase in external granule cells compared to in wild-type mice

neoplasm
neoplasm ( J:141515 )
N
• despite the increase in granule cells, mice do not develop medulloblastoma




Genotype
MGI:3818751
cx8
Allelic
Composition		 Trp53tm1Brd/Trp53tm1Brd
Xrcc5tm1Dbr/Xrcc5tm1Dbr
Genetic
Background		 involves: 129S7/SvEvBrd * C57BL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trp53tm1Brd mutation (5 available); any Trp53 mutation (239 available)
Xrcc5tm1Dbr mutation (0 available); any Xrcc5 mutation (71 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:141515 )
• median lifespan is 7 weeks
• maximum lifespan is 16 weeks

neoplasm
increased lymphoma incidence ( J:141515 )
• in 8 of 13 mice

nervous system




Genotype
MGI:3818748
cx9
Allelic
Composition		 Rag1tm1Mom/Rag1tm1Mom
Trp53tm1Brd/Trp53tm1Brd
Xrcc5tm1Dbr/Xrcc5tm1Dbr
Genetic
Background		 involves: 129S7/SvEvBrd * C57BL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rag1tm1Mom mutation (49 available); any Rag1 mutation (123 available)
Trp53tm1Brd mutation (5 available); any Trp53 mutation (239 available)
Xrcc5tm1Dbr mutation (0 available); any Xrcc5 mutation (71 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:141515 )
• median lifespan is 14 weeks compared to 7 weeks in Trp53tm1Brd Xrcc5tm1Dbr
• maximum lifespan is 20 weeks compared to 16 weeks in Trp53tm1Brd Xrcc5tm1Dbr

neoplasm
increased stomach tumor incidence ( J:141515 )
• one mouse developed a stomach neoplasm
increased T cell derived lymphoma incidence ( J:141515 )
• 55% mice develop T cell lymphomas in the liver, spleen, lymph nodes, bone marrow, kidney, heart, lungs and ovaries
increased medulloblastoma incidence ( J:141515 )
• mice that exhibit vertigo develop medulloblastoma
• 66.7% of mice exhibit medulloblastoma at the time of morbidity

respiratory system
respiratory distress ( J:141515 )
• one-fifth of mice exhibit labored breathing prior to death compared to two-thirds of Rag1tm1Mom Trp53tm1Brd

behavior/neurological
impaired balance ( J:141515 )
• two-thirds of mice exhibit an acute onset of vertigo that leads to disabled mobility and severe dehydration as a result of inability to reach the water source

homeostasis/metabolism
dehydration ( J:141515 )
• two-thirds of mice exhibit an acute onset of vertigo that leads to disabled mobility and severe dehydration as a result of inability to reach the water source

endocrine/exocrine glands
increased T cell derived lymphoma incidence ( J:141515 )
• 55% mice develop T cell lymphomas in the liver, spleen, lymph nodes, bone marrow, kidney, heart, lungs and ovaries

nervous system
increased medulloblastoma incidence ( J:141515 )
• mice that exhibit vertigo develop medulloblastoma
• 66.7% of mice exhibit medulloblastoma at the time of morbidity

digestive/alimentary system
increased stomach tumor incidence ( J:141515 )
• one mouse developed a stomach neoplasm

immune system
increased T cell derived lymphoma incidence ( J:141515 )
• 55% mice develop T cell lymphomas in the liver, spleen, lymph nodes, bone marrow, kidney, heart, lungs and ovaries

hematopoietic system
increased T cell derived lymphoma incidence ( J:141515 )
• 55% mice develop T cell lymphomas in the liver, spleen, lymph nodes, bone marrow, kidney, heart, lungs and ovaries

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
medulloblastoma DOID:0050902 OMIM:155255
 J:141515




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Send questions and comments to User Support. 		last database update
10/29/2024
MGI 6.24 		The Jackson Laboratory