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Phenotypes Associated with This Genotype
Genotype
MGI:3589925
Allelic
Composition
Foxp3sf/Y
Genetic
Background
either: 129Rl.Cg-Foxp3sf or (involves: 101/Rl * C3Hf/Rl * STOCK MR)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxp3sf mutation (5 available); any Foxp3 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• many mice have a thin, sharply demarcated rim of necrosis along the margins of the liver
• areas of acute coagulative necrosis without inflammation are present at the tips of liver lobes

mortality/aging
• mean lifespan is about 24 days although a few survive to 30-39 days of age

growth/size/body
• crusting of the ears by 14-15 days of age
• ears are small and sometimes folded
• swollen abdomen

vision/eye
• scaliness on eyelids that seals the palpebral fissure

hearing/vestibular/ear
• crusting of the ears by 14-15 days of age
• ears are small and sometimes folded

reproductive system
• swelling and reddening of the genital papilla at 12-14 days of age
• testicles are retained in the abdominal cavity

immune system
• the thymic cortex is rapidly depleted of lymphocytes over time
• a bilobed thymus is present but extremely small and is densely populated with lymphocytes
• exhibit lymphoproliferative lesions
• mild to moderate sinus histiocytosis in the lymph nodes
• lesions in the spleen
• massively expanded by hematopoietic cells
• spleen weights are 2-4 times those of controls
• white pulp may be enlarged or shrunken and is composed of blastlike mononuclear cells with vesicular nuclei, prominent reticulum cells, lymphoblasts, and variable number of plasma cells
• occasional erythrophagocytic macrophages and plasma cells with Russel's bodies can be seen at the margins of the white pulp
• follicles are lacking and lymphocytes are absent in the spleen
• distinct marginal zones are lacking
• IgA synthesis is precocious, detectable at P21 unlike in controls
• apparent as early as 10 days of age and ranges from 2-10 times the concentration in controls
• lesions in the lymph nodes that contain a randomly distributed mixture of lymphoblasts, blastlike mononuclear cells with vesicular nuclei, hypertrophic reticulum cells, macrophages, and granulocytes instead of small lymphocytes
• complete loss of normal architecture
• lack of discernible follicles
• thickening of the medullary cords
• subcutaneous lymph nodes such as inguinal, axillary, and cervical nodes and consistently enlarged while visceral lymph nodes are slightly or moderately enlarged
• perivascular infiltrates of mixed mononuclear cells and granulocytes are seen in heart, pancreas, lung, salivary gland, kidney, and mesenteries
• scaliness on eyelids that seals the palpebral fissure
• leukocytic infiltrations are present in the portal areas of the liver
• a diffuse lymphohistiocytic infiltration of the entire dermis that is most severe in the prepuce, ears, eyelids and facial skin

hematopoietic system
• the thymic cortex is rapidly depleted of lymphocytes over time
• a bilobed thymus is present but extremely small and is densely populated with lymphocytes
• abundant hematopoiesis in the hepatic sinusoids, spleen and bone marrow
• mean hematocrit values are about one half those of controls
• mean hemoglobin volumes are about one half those of controls
• exhibit lymphoproliferative lesions
• mild to moderate sinus histiocytosis in the lymph nodes
• lesions in the spleen
• massively expanded by hematopoietic cells
• spleen weights are 2-4 times those of controls
• white pulp may be enlarged or shrunken and is composed of blastlike mononuclear cells with vesicular nuclei, prominent reticulum cells, lymphoblasts, and variable number of plasma cells
• occasional erythrophagocytic macrophages and plasma cells with Russel's bodies can be seen at the margins of the white pulp
• follicles are lacking and lymphocytes are absent in the spleen
• distinct marginal zones are lacking
• IgA synthesis is precocious, detectable at P21 unlike in controls
• apparent as early as 10 days of age and ranges from 2-10 times the concentration in controls

liver/biliary system
• leukocytic infiltrations are present in the portal areas of the liver
• lesions in the liver
• occasionally livers have marked erythrophagocytosis or hemosiderin deposits in Kupffer cells
• many mice have a thin, sharply demarcated rim of necrosis along the margins of the liver
• areas of acute coagulative necrosis without inflammation are present at the tips of liver lobes
• centrolobular hepatic cords are atrophied
• severely anemic mice may exhibit slight icterus

homeostasis/metabolism
• occasionally see acute right atrial thrombosis
• severely anemic mice may exhibit pleural effusion
• occasionally livers have marked hemosiderin deposits in Kupffer cells

renal/urinary system

behavior/neurological

cardiovascular system
• severely anemic mice may exhibit cardiomegaly

endocrine/exocrine glands
• the thymic cortex is rapidly depleted of lymphocytes over time
• a bilobed thymus is present but extremely small and is densely populated with lymphocytes
• testicles are retained in the abdominal cavity

craniofacial
• crusting of the ears by 14-15 days of age
• ears are small and sometimes folded

integument
• a diffuse lymphohistiocytic infiltration of the entire dermis that is most severe in the prepuce, ears, eyelids and facial skin
• occasionally see intraepidermal pustules
• moderate to severe orthokeratotic hyperkeratosis
• multifocal parakeratosis
• by 14-15 days of age, ears, feet, tail and eyelids are scaly
• scales on base of tail may form thick circumferential rings
• apparent at 7 days of age
• scales on base of tail may form thick circumferential rings

respiratory system
• severely anemic mice may exhibit pleural effusion


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/01/2019
MGI 6.14
The Jackson Laboratory