Phenotypes associated with this allele

• Allele Symbol: Cux1^tm1Rhsc
• Allele Name: targeted mutation 1, Richard H Scheuermann
• Allele ID: MGI:3586992
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cux1^tm1Rhsc/Cux1^tm1Rhsc	involves: 129S1/Sv * C57BL/6J	MGI:3590544

Genotype
MGI:3590544

hm1

• Allelic Composition: Cux1^tm1Rhsc/Cux1^tm1Rhsc
• Genetic Background: involves: 129S1/Sv * C57BL/6J

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

mortality/aging

premature death ( J:100055 )

• few homozygotes live beyond 4 weeks of age

neonatal lethality, incomplete penetrance ( J:100055 )

• homozygotes are present at only 5.4% of the total rather than the expected 25% and about 90% of surviving homozygotes are male

immune system

thymus cortex hypoplasia ( J:100055 )

small thymus ( J:100055 )

thymus hypoplasia ( J:100055 )

• cellularity of the thymus is severely reduced with preferential loss in the cortex and apoptosis in the thymus is increased

decreased thymocyte number ( J:100055 )

• a 5-fold reduction in the number of thymocytes per gram body weight is seen in the thymus; however T cells in the spleen are not reduced

abnormal T cell differentiation ( J:100055 )

• expression of CD25 is retained in cells with intermediate CD3 expression rather than being lost as in wild-type cells

decreased double-positive T cell number ( J:100055 )

• all populations of T cells are decreased but the double positive population is preferentially affected

abnormal myelopoiesis ( J:100055 )

• the percentage and number of myeloid cells is increased in the bone marrow spleen and peripheral blood and the number of myeloid progenitors capable of colony formation in vitro is increased 2- to 3-fold

• the number of erythroid progenitors is not increased

decreased B cell number ( J:100055 )

• a 2- to 3-fold reduction in the percentage and absolute number of B cells is seen compared to littermate controls and B cell apoptosis is increased 2- to 3-fold

abnormal tumor necrosis factor level ( J:100055 )

• TNF levels are elevated in extracts from hematopoietic and nonhematopoietic tissues and in cultures of bone marrow and thymus

growth/size/body

decreased body size ( J:100055 )

• reduced size is noticeable at 3 - 4 days of age

cachexia ( J:100055 )

postnatal growth retardation ( J:100055 )

• homozygotes fail to thrive and gain little weight

adipose tissue

decreased total body fat amount ( J:100055 )

• loss of body fat including subcutaneous fat is seen

skeleton

abnormal bone structure ( J:100055 )

• the bones appear thin and flaky

hematopoietic system

thymus cortex hypoplasia ( J:100055 )

small thymus ( J:100055 )

thymus hypoplasia ( J:100055 )

• cellularity of the thymus is severely reduced with preferential loss in the cortex and apoptosis in the thymus is increased

decreased thymocyte number ( J:100055 )

• a 5-fold reduction in the number of thymocytes per gram body weight is seen in the thymus; however T cells in the spleen are not reduced

abnormal T cell differentiation ( J:100055 )

• expression of CD25 is retained in cells with intermediate CD3 expression rather than being lost as in wild-type cells

decreased double-positive T cell number ( J:100055 )

• all populations of T cells are decreased but the double positive population is preferentially affected

abnormal myelopoiesis ( J:100055 )

• the percentage and number of myeloid cells is increased in the bone marrow spleen and peripheral blood and the number of myeloid progenitors capable of colony formation in vitro is increased 2- to 3-fold

• the number of erythroid progenitors is not increased

decreased B cell number ( J:100055 )

• a 2- to 3-fold reduction in the percentage and absolute number of B cells is seen compared to littermate controls and B cell apoptosis is increased 2- to 3-fold

homeostasis/metabolism

abnormal tumor necrosis factor level ( J:100055 )

• TNF levels are elevated in extracts from hematopoietic and nonhematopoietic tissues and in cultures of bone marrow and thymus

integument

alopecia ( J:100055 )

• hair loss is seen around 2 - 3 weeks of age

abnormal hair follicle morphology ( J:100055 )

• hair follicles appear greater in number and somewhat disorganized

increased hair follicle number ( J:100055 )

wavy vibrissae ( J:100055 )

endocrine/exocrine glands

thymus cortex hypoplasia ( J:100055 )

small thymus ( J:100055 )

thymus hypoplasia ( J:100055 )

• cellularity of the thymus is severely reduced with preferential loss in the cortex and apoptosis in the thymus is increased

decreased thymocyte number ( J:100055 )

• a 5-fold reduction in the number of thymocytes per gram body weight is seen in the thymus; however T cells in the spleen are not reduced