Phenotypes associated with this allele

• Allele Symbol: Nudcd3^{em1(IMPC)Wtsi}
• Allele Name: endonuclease-mediated mutation 1, Wellcome Trust Sanger Institute
• Allele ID: MGI:6153752
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nudcd3^em1(IMPC)Wtsi/Nudcd3^em1(IMPC)Wtsi	C57BL/6N-Nudcd3^em1(IMPC)Wtsi/Wtsi	MGI:6696838

Genotype
MGI:6696838

hm1

• Allelic Composition: Nudcd3^{em1(IMPC)Wtsi}/Nudcd3^{em1(IMPC)Wtsi}
• Genetic Background: C57BL/6N-Nudcd3^{em1(IMPC)Wtsi}/Wtsi

Data Sources

IMPC Data for Nudcd3

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

endocrine/exocrine glands

thymus hypoplasia ( J:351330 )

• thymic cellularity is lower despite normal corticomedullary architecture

increased DN3 thymocyte number ( J:351330 )

• the DN expansion occurs at the DN3 (CD25^hiCD44^lo stage, specifically the CD27^lo DN3a phase)

• the absolute number of DN3a thymocytes is increased despite a much smaller thymus

• although expanded, the CD25+DN3 compartment proliferates less

growth/size/body

decreased body size ( J:351330 )

decreased body weight ( J:351330 )

hematopoietic system

thymus hypoplasia ( J:351330 )

• thymic cellularity is lower despite normal corticomedullary architecture

abnormal immunoglobulin light chain V-J recombination ( J:351330 )

• reduction in frequency of lambda light chain expressing B lymphocytes in the spleen, lymph nodes and blood

abnormal T cell differentiation ( J:351330 )

• incomplete block in thymocyte development at stages where V(D)J recombination occurs

abnormal T cell receptor V(D)J recombination ( J:351330 )

• mice exhibit impaired V(D)J recombination

• mice show an accumulation of double negative (DN), DN3 (CD44-CD25+), DN3a (CD27lo) and double positive 1 (DP1; CD5^loTCR^hi) thymocytes

• splenocytes show less diverse TCR clonotypes and individual clonotypes tend to be more expanded out of proportion to the lower fraction of naive cells

• mice show strongly skewed Tra gene usage toward V segments from the 3 end of the V locus and J segments from the 5 end of the J locus

• mice have fewer nonproductive Trb chain rearrangements than wild-type mice

• both the pattern of TCR gene segment usage and the lack of nonproductive rearrangements suggest a lower frequency of repeated recombinations of Tra/Trb loci

increased double-negative T cell number ( J:351330 )

• increase in CD4-CD8- double-negative (DN) thymocytes

increased DN3 thymocyte number ( J:351330 )

• the DN expansion occurs at the DN3 (CD25^hiCD44^lo stage, specifically the CD27^lo DN3a phase)

• the absolute number of DN3a thymocytes is increased despite a much smaller thymus

• although expanded, the CD25+DN3 compartment proliferates less

increased double-positive T cell number ( J:351330 )

• mice show an expansion of the earliest double positive (DP) subset (DP1), in which alpha chain rearrangement occurs

• however, subsequent development of CD4 and CD8 single-positive (SP) lymphocytes appears normal

abnormal bone marrow cell morphology/development ( J:351330 )

• bone marrow shows an accumulation of IgM^-IgD^- pre-B cells

• bone marrow shows a trend toward a reduction in mature IgM+IgD+ B cells

• however, no effect on pro-B cell populations is seen

increased red blood cell distribution width ( J:211773 )

♀

IMPC - WTSI

increased pre-B cell number ( J:351330 )

• bone marrow shows an accumulation of IgM^-IgD^- pre-B cells

decreased NK T cell number ( J:351330 )

• mice show markedly reduced invariant NK T (iNKT) cells

increased memory T cell number ( J:351330 )

• the ratio of CD44^hi memory T cells to naive T cells is increased in the spleen and lymph nodes

increased IgE level ( J:351330 )

• slight increase in serum IgE levels

increased IgG2b level ( J:351330 )

• slight increase in IgG2b levels

increased IgM level ( J:351330 )

• slight increase in serum IgM levels

homeostasis/metabolism

increased circulating creatinine level ( J:211773 )

♀

IMPC - WTSI

increased blood urea nitrogen level ( J:211773 )

♀

IMPC - WTSI

decreased circulating glucose level ( J:211773 )

♀

IMPC - WTSI

increased circulating insulin level ( J:211773 )

♀

IMPC - WTSI

immune system

thymus hypoplasia ( J:351330 )

• thymic cellularity is lower despite normal corticomedullary architecture

abnormal immunoglobulin light chain V-J recombination ( J:351330 )

• reduction in frequency of lambda light chain expressing B lymphocytes in the spleen, lymph nodes and blood

abnormal T cell differentiation ( J:351330 )

• incomplete block in thymocyte development at stages where V(D)J recombination occurs

abnormal T cell receptor V(D)J recombination ( J:351330 )

• mice exhibit impaired V(D)J recombination

• mice show an accumulation of double negative (DN), DN3 (CD44-CD25+), DN3a (CD27lo) and double positive 1 (DP1; CD5^loTCR^hi) thymocytes

• splenocytes show less diverse TCR clonotypes and individual clonotypes tend to be more expanded out of proportion to the lower fraction of naive cells

• mice show strongly skewed Tra gene usage toward V segments from the 3 end of the V locus and J segments from the 5 end of the J locus

• mice have fewer nonproductive Trb chain rearrangements than wild-type mice

• both the pattern of TCR gene segment usage and the lack of nonproductive rearrangements suggest a lower frequency of repeated recombinations of Tra/Trb loci

increased double-negative T cell number ( J:351330 )

• increase in CD4-CD8- double-negative (DN) thymocytes

increased DN3 thymocyte number ( J:351330 )

• the DN expansion occurs at the DN3 (CD25^hiCD44^lo stage, specifically the CD27^lo DN3a phase)

• the absolute number of DN3a thymocytes is increased despite a much smaller thymus

• although expanded, the CD25+DN3 compartment proliferates less

increased double-positive T cell number ( J:351330 )

• mice show an expansion of the earliest double positive (DP) subset (DP1), in which alpha chain rearrangement occurs

• however, subsequent development of CD4 and CD8 single-positive (SP) lymphocytes appears normal

increased pre-B cell number ( J:351330 )

• bone marrow shows an accumulation of IgM^-IgD^- pre-B cells

decreased NK T cell number ( J:351330 )

• mice show markedly reduced invariant NK T (iNKT) cells

increased memory T cell number ( J:351330 )

• the ratio of CD44^hi memory T cells to naive T cells is increased in the spleen and lymph nodes

increased IgE level ( J:351330 )

• slight increase in serum IgE levels

increased IgG2b level ( J:351330 )

• slight increase in IgG2b levels

increased IgM level ( J:351330 )

• slight increase in serum IgM levels

mortality/aging

prenatal lethality, incomplete penetrance ( J:351330 )

• mice are born at sub-Mendelian frequency

reproductive system

infertility ( J:351330 )