Phenotypes Associated with This Genotype

Genotype
MGI:4829639

• Allelic Composition: Gon4l^justy/Gon4l^justy
• Genetic Background: C3HeB/FeJ-Gon4l^justy

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

immune system

decreased pro-B cell number ( J:163412 )

• in the bone marrow

arrested B cell differentiation ( J:163412 )

• B cell lymphopoiesis is arrested at the early pre-B cell stage

decreased B cell number ( J:163412 )

• B220+CD43+ B and immature B cells in the bone marrow are decreased 300-fold compared to in wild-type mice

• however, the number of B220+CD43+ cells in the bone marrow is normal

• mice have fewer splenic CD19+ cells than wild-type mice

decreased immature B cell number ( J:163412 )

• B220+CD43+ B and immature B cells in the bone marrow are decreased 300-fold compared to in wild-type mice

• however, the number of B220+CD43+ cells in the bone marrow is normal

absent B cells ( J:163412 )

• mice lack CD45R/B220+ cells unlike wild-type mice

• lymph nodes or peritoneal lavages lack CD19+ cells unlike in wild-type mice

• however, mice transplanted with wild-type bone marrow exhibit B lymphopoiesis

decreased T cell number ( J:163412 )

• 2-fold fewer CD3+ cells are found in the spleen compared to in wild-type mice

small spleen ( J:163412 )

spleen hypoplasia ( J:163412 )

decreased spleen white pulp amount ( J:163412 )

abnormal humoral immune response ( J:163412 )

• mice fail to generate antibodies when challenged with an antigen unlike wild-type mice

decreased immunoglobulin level ( J:163412 )

• mice lack serum immunoglobulin unlike wild-type mice

hematopoietic system

decreased pro-B cell number ( J:163412 )

• in the bone marrow

arrested B cell differentiation ( J:163412 )

• B cell lymphopoiesis is arrested at the early pre-B cell stage

abnormal bone marrow cell morphology/development ( J:163412 )

• the ratio of myeloid to lymphoid cells is increased compared to in wild-type mice

• the Mac1+Gr+ compartment of the bone marrow is enlarged compared to in wild-type mice

• the number of myeloid/granulocitic/erythroid progenitors is increased compared to in wild-type mice

• however, total bone marrow and hematopoietic stem cell numbers are normal

decreased B cell number ( J:163412 )

• B220+CD43+ B and immature B cells in the bone marrow are decreased 300-fold compared to in wild-type mice

• however, the number of B220+CD43+ cells in the bone marrow is normal

• mice have fewer splenic CD19+ cells than wild-type mice

decreased immature B cell number ( J:163412 )

• B220+CD43+ B and immature B cells in the bone marrow are decreased 300-fold compared to in wild-type mice

• however, the number of B220+CD43+ cells in the bone marrow is normal

absent B cells ( J:163412 )

• mice lack CD45R/B220+ cells unlike wild-type mice

• lymph nodes or peritoneal lavages lack CD19+ cells unlike in wild-type mice

• however, mice transplanted with wild-type bone marrow exhibit B lymphopoiesis

decreased T cell number ( J:163412 )

• 2-fold fewer CD3+ cells are found in the spleen compared to in wild-type mice

small spleen ( J:163412 )

spleen hypoplasia ( J:163412 )

decreased spleen white pulp amount ( J:163412 )

decreased immunoglobulin level ( J:163412 )

• mice lack serum immunoglobulin unlike wild-type mice

neoplasm

increased salivary adenocarcinoma incidence ( J:197352 )

• 25% incidence of spontaneous carcinoma development with myoepithelial and basaloid differentiation in salivary glands in mutants over 6 months of age, resembling human basal cell adenocarcinoma with myoepithelial differentiation

• tumors develop proximate to submandibular glands and to a lesser extent in the sublingual and parotid glands

• exhibit central cavitary lesions filled with necrotic debris that are lined by tumor cells and contain a mixture of spindle cells interspersed with epitheloid cells and lesser basaloid to clear cell differentiation

• tumors show variable presence of high mitotic rate, pleomorphism (anisokaryosis and anisocytosis), and invasion into adjacent salivary glands

endocrine/exocrine glands

increased salivary adenocarcinoma incidence ( J:197352 )

• 25% incidence of spontaneous carcinoma development with myoepithelial and basaloid differentiation in salivary glands in mutants over 6 months of age, resembling human basal cell adenocarcinoma with myoepithelial differentiation

• tumors develop proximate to submandibular glands and to a lesser extent in the sublingual and parotid glands

• exhibit central cavitary lesions filled with necrotic debris that are lined by tumor cells and contain a mixture of spindle cells interspersed with epitheloid cells and lesser basaloid to clear cell differentiation

• tumors show variable presence of high mitotic rate, pleomorphism (anisokaryosis and anisocytosis), and invasion into adjacent salivary glands

digestive/alimentary system

increased salivary adenocarcinoma incidence ( J:197352 )

• 25% incidence of spontaneous carcinoma development with myoepithelial and basaloid differentiation in salivary glands in mutants over 6 months of age, resembling human basal cell adenocarcinoma with myoepithelial differentiation

• tumors develop proximate to submandibular glands and to a lesser extent in the sublingual and parotid glands

• exhibit central cavitary lesions filled with necrotic debris that are lined by tumor cells and contain a mixture of spindle cells interspersed with epitheloid cells and lesser basaloid to clear cell differentiation

• tumors show variable presence of high mitotic rate, pleomorphism (anisokaryosis and anisocytosis), and invasion into adjacent salivary glands

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
salivary gland cancer		DOID:8850		J:197352