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Phenotypes Associated with This Genotype
Genotype
MGI:5427085
Allelic
Composition
Polbtm1.1Jbsw/Polbtm1.1Jbsw
Genetic
Background
involves: 129/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Polbtm1.1Jbsw mutation (0 available); any Polb mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Polbtm1.1Jbsw/Polbtm1.1Jbsw embryos are small

mortality/aging
• about 60% die within 24h of birth

cellular
• after 5 days in culture 2 fold greater numbers of MEFs accumulate in G2/M compared to wild-type MEFs
• increased cell death in MEFs following methyl methanesulfonate (MMS) treatment
• in many organs (heart, lung, stomach, cortex midbrain, kidney, spleen, cerebellum, cortex forebrain, and fetal liver) of embryos
• brains show almost a 40-fold increase in apoptosis at E14
• in embryos (J:183837)
• increase in levels of apoptosis in the spleen; TUNEL-positive cells mostly overlap with CD4 T helper cells (J:206872)
• in fetal livers
• in many organs of embryos
• MEFs double at about half the rate of controls
• growth of MEFs in 5% oxygen yields nearly equivalent proliferation to wild-type MEFs in 20% oxygen
• deficient in MEFs
• MEFs accumulate BER reaction intermediates
• significant increase in chromosome fragments, as well as interchromosome and intrachromosome fusions in MEFs

growth/size/body
• about 33% smaller at birth
• survivors remain smaller during the first 3 weeks of life

hematopoietic system
• in embryos (J:183837)
• increase in levels of apoptosis in the spleen; TUNEL-positive cells mostly overlap with CD4 T helper cells (J:206872)
• B cells have shorter CDR3 junctions in the Ig heavy chain compared to wild-type; majority of CDR3 junctions are 31-35 base pairs in length compared to 41-45 base pairs in wild-type mice with many more unidentifiable D regions in the mutant
• the lengths of N/P additions between the rearranged V and D segments are shorter
• however, no differences in length of the Ig light chain junctions or the T receptors and class switch recombination is normal, with no differences in the levels of IgG1, IgG2a, IgG2b or IgG3
• mice show increased frequency of somatic hypermutation; the frequencies of transversions at GC base pairs are most significantly increased, although increases in mutations at A:T base pairs are also increased
• mice exhibit increased levels of mutation in the AID hotspot motifs
• elevation in numbers of germinal cell B cells and follicular T helper cells in the spleen
• elevation in numbers of follicular T helper cells in the spleen
• elevation in numbers of germinal cell B cells and follicular T helper cells in the spleen
• by 12 months of age, mice show increased levels of IgG localized to the glomeruli

homeostasis/metabolism
• deficient in MEFs
• MEFs accumulate BER reaction intermediates

immune system
• in embryos (J:183837)
• increase in levels of apoptosis in the spleen; TUNEL-positive cells mostly overlap with CD4 T helper cells (J:206872)
• infiltration of lymphocytes, predominantly T and B cells, in salivary glands of a few mice
• B cells have shorter CDR3 junctions in the Ig heavy chain compared to wild-type; majority of CDR3 junctions are 31-35 base pairs in length compared to 41-45 base pairs in wild-type mice with many more unidentifiable D regions in the mutant
• the lengths of N/P additions between the rearranged V and D segments are shorter
• however, no differences in length of the Ig light chain junctions or the T receptors and class switch recombination is normal, with no differences in the levels of IgG1, IgG2a, IgG2b or IgG3
• mice show increased frequency of somatic hypermutation; the frequencies of transversions at GC base pairs are most significantly increased, although increases in mutations at A:T base pairs are also increased
• mice exhibit increased levels of mutation in the AID hotspot motifs
• elevation in numbers of germinal cell B cells and follicular T helper cells in the spleen
• elevation in numbers of follicular T helper cells in the spleen
• elevation in numbers of germinal cell B cells and follicular T helper cells in the spleen
• by 12 months of age, mice show increased levels of IgG localized to the glomeruli
• cervical lymphoadenopathy with significant infiltration of T and B lymphocytes
• infiltration of T and B lymphocytes into cervical lymph nodes
• mice show increased levels of antinuclear antibodies, leading to glomerulonephritis, dermatitis, and cervical lymphadenopathy
• progressive increase in levels of antinuclear antibodies in blood sera over time
• increase in prevalence of dermatitis

nervous system
• brains show almost a 40-fold increase in apoptosis at E14

renal/urinary system

liver/biliary system
• in fetal livers

digestive/alimentary system
• a few mutants exhibit enlarged salivary glands that have infiltrating lymphocytes, which are predominantly T and B cells
• infiltration of lymphocytes, predominantly T and B cells, in salivary glands of a few mice

endocrine/exocrine glands
• a few mutants exhibit enlarged salivary glands that have infiltrating lymphocytes, which are predominantly T and B cells
• infiltration of lymphocytes, predominantly T and B cells, in salivary glands of a few mice

integument
• increase in prevalence of dermatitis

embryo
• in many organs (heart, lung, stomach, cortex midbrain, kidney, spleen, cerebellum, cortex forebrain, and fetal liver) of embryos


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory