Phenotypes Associated with This Genotype

Genotype
MGI:5301555

• Allelic Composition: Cxcr4^tm1.1Bala/Cxcr4⁺
• Genetic Background: B6.129S2-Cxcr4^tm1.1Bala

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

immune system

abnormal immune system morphology ( J:186735 )

abnormal immune system cell morphology ( J:186735 )

abnormal neutrophil morphology ( J:186735 )

• relative number of circulating cells is increased

increased mature B cell number ( J:186735 )

• increased number of recirculating mature B cells

increased NK cell number ( J:178789 )

• in the bone marrow and lymph nodes

abnormal CD4-positive, alpha-beta T cell number ( J:186735 )

• relative number of circulating cells is increased

decreased leukocyte cell number ( J:186735 )

• 80% fewer leukocytes than in controls

decreased B cell number ( J:186735 )

• decreased number of circulating B cells

decreased immature B cell number ( J:186735 )

• decrease in pro/pre-B cells

decreased NK cell number ( J:178789 )

• in the blood and spleen

decreased T cell number ( J:186735 )

• absolute numbers of all T cell types is reduced

abnormal immune system organ morphology ( J:186735 )

abnormal thymus morphology ( J:186735 )

• 30% reduction in thymus cellularity

abnormal spleen morphology ( J:186735 )

• 45% lower spleen cellularity

decreased spleen weight ( J:186735 )

• 20% lower spleen weight

abnormal spleen white pulp morphology ( J:186735 )

• marginal zone B cell numbers are maintained but all other types are reduced

abnormal lymph node morphology ( J:186735 )

• increased total cell count in lymph nodes

• disorganized lymph node architecture

• "high endothelial venule" predominantly localized to T cell zones but with a scattered distribution

abnormal lymph node B cell domain morphology ( J:186735 )

• absence of B-cell follicles

abnormal immune system physiology ( J:186735 )

decreased B cell apoptosis ( J:186735 )

increased immunoglobulin level ( J:186735 )

increased IgG level ( J:186735 )

increased IgM level ( J:186735 )

abnormal NK cell physiology ( J:178789 )

• NK cells exhibit increased migration to CXCL12 gradients compared with wild-type cells

cellular

decreased B cell apoptosis ( J:186735 )

abnormal cell chemotaxis ( J:186735 )

• increased sensitivity of leukocytes to CXCL12 induced chemotaxis

hematopoietic system

decreased B cell apoptosis ( J:186735 )

abnormal thymus morphology ( J:186735 )

• 30% reduction in thymus cellularity

abnormal neutrophil morphology ( J:186735 )

• relative number of circulating cells is increased

increased mature B cell number ( J:186735 )

• increased number of recirculating mature B cells

increased NK cell number ( J:178789 )

• in the bone marrow and lymph nodes

abnormal CD4-positive, alpha-beta T cell number ( J:186735 )

• relative number of circulating cells is increased

decreased leukocyte cell number ( J:186735 )

• 80% fewer leukocytes than in controls

decreased B cell number ( J:186735 )

• decreased number of circulating B cells

decreased immature B cell number ( J:186735 )

• decrease in pro/pre-B cells

decreased NK cell number ( J:178789 )

• in the blood and spleen

decreased T cell number ( J:186735 )

• absolute numbers of all T cell types is reduced

abnormal spleen morphology ( J:186735 )

• 45% lower spleen cellularity

decreased spleen weight ( J:186735 )

• 20% lower spleen weight

abnormal spleen white pulp morphology ( J:186735 )

• marginal zone B cell numbers are maintained but all other types are reduced

increased immunoglobulin level ( J:186735 )

increased IgG level ( J:186735 )

increased IgM level ( J:186735 )

abnormal NK cell physiology ( J:178789 )

• NK cells exhibit increased migration to CXCL12 gradients compared with wild-type cells

endocrine/exocrine glands

abnormal thymus morphology ( J:186735 )

• 30% reduction in thymus cellularity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
WHIM syndrome 1		DOID:0060591	OMIM:193670	J:186735