Phenotypes Associated with This Genotype

Genotype
MGI:4829510

• Allelic Composition: Prkdc^tm1Get/Prkdc^tm1Get
• Genetic Background: involves: 129S4/SvJae * Black Swiss

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

immune system

abnormal thymus corticomedullary boundary morphology ( J:50222 )

• thymus lacks distinct cortico-medullary junction

thymus hypoplasia ( J:50222 )

• thymus is small with 10 to 50-fold fewer cells than control

abnormal B cell differentiation ( J:50222 )

abnormal immunoglobulin heavy chain V(D)J recombination ( J:50222 )

• VK-JK2 rearrangements are severely reduced

abnormal immunoglobulin light chain V-J recombination ( J:50222 )

• D-JH4 and VH7193-DJH4 rearrangements are severely reduced

arrested B cell differentiation ( J:50222 )

• B cell development is arrested at pro-B cell stage (B220+ CD43+ IgM-)

abnormal T cell differentiation ( J:50222 )

abnormal T cell receptor alpha chain V-J recombination ( J:50222 )

• Valpha8-Jalpha50 rearrangements are undetectable

abnormal T cell receptor beta chain V(D)J recombination ( J:50222 )

• rearrangements of Vbeta8-DJbeta2.6 are rare in thymocytes and detected only at low levels in the spleen

abnormal T cell receptor delta chain V(D)J recombination ( J:50222 )

• coding join formation for Ddelta2-Jdelta1 is detectable by PCR, but Vdelta1-DJdelta1 is undetectable in thymocytes

increased double-negative T cell number ( J:50222 )

• thymocytes display an accumulation of pre-T cells (CD44- CD25+)

increased double-positive T cell number ( J:50222 )

• accumulation of double positive T cells is highest in 8 day old mice and represents 43-45% of total thymocytes

arrested T cell differentiation ( J:50222 )

• mature T cells are not detected in periphery of 2 week old animals

increased NK cell number ( J:50222 )

• splenic population of Mac-1+ (myeloid) and DX5+ (natural killer) cells is increased

abnormal T cell number ( J:50222 )

decreased single-positive T cell number ( J:50222 )

• splenic population of single positive T cells is less than 5% in spleen of 6 week old mice

spleen hypoplasia ( J:50222 )

• spleen is small with 5 fold fewer cells than control

decreased spleen white pulp amount ( J:50222 )

• splenic white pulp nodules are reduced in size

decreased IgM level ( J:50222 )

• serum IgM cannot be detected in 2 week old mice

small lymph nodes ( J:50222 )

• lymph nodes are reduced in size

hematopoietic system

abnormal thymus corticomedullary boundary morphology ( J:50222 )

• thymus lacks distinct cortico-medullary junction

thymus hypoplasia ( J:50222 )

• thymus is small with 10 to 50-fold fewer cells than control

abnormal B cell differentiation ( J:50222 )

abnormal immunoglobulin heavy chain V(D)J recombination ( J:50222 )

• VK-JK2 rearrangements are severely reduced

abnormal immunoglobulin light chain V-J recombination ( J:50222 )

• D-JH4 and VH7193-DJH4 rearrangements are severely reduced

arrested B cell differentiation ( J:50222 )

• B cell development is arrested at pro-B cell stage (B220+ CD43+ IgM-)

abnormal T cell differentiation ( J:50222 )

abnormal T cell receptor alpha chain V-J recombination ( J:50222 )

• Valpha8-Jalpha50 rearrangements are undetectable

abnormal T cell receptor beta chain V(D)J recombination ( J:50222 )

• rearrangements of Vbeta8-DJbeta2.6 are rare in thymocytes and detected only at low levels in the spleen

abnormal T cell receptor delta chain V(D)J recombination ( J:50222 )

• coding join formation for Ddelta2-Jdelta1 is detectable by PCR, but Vdelta1-DJdelta1 is undetectable in thymocytes

arrested T cell differentiation ( J:50222 )

• mature T cells are not detected in periphery of 2 week old animals

increased NK cell number ( J:50222 )

• splenic population of Mac-1+ (myeloid) and DX5+ (natural killer) cells is increased

abnormal T cell number ( J:50222 )

increased double-negative T cell number ( J:50222 )

• thymocytes display an accumulation of pre-T cells (CD44- CD25+)

increased double-positive T cell number ( J:50222 )

• accumulation of double positive T cells is highest in 8 day old mice and represents 43-45% of total thymocytes

decreased single-positive T cell number ( J:50222 )

• splenic population of single positive T cells is less than 5% in spleen of 6 week old mice

spleen hypoplasia ( J:50222 )

• spleen is small with 5 fold fewer cells than control

decreased spleen white pulp amount ( J:50222 )

• splenic white pulp nodules are reduced in size

decreased IgM level ( J:50222 )

• serum IgM cannot be detected in 2 week old mice

cellular

increased cellular sensitivity to gamma-irradiation ( J:50222 )

• MEFs exhibit radiosensitivity

endocrine/exocrine glands

abnormal thymus corticomedullary boundary morphology ( J:50222 )

• thymus lacks distinct cortico-medullary junction

thymus hypoplasia ( J:50222 )

• thymus is small with 10 to 50-fold fewer cells than control