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Phenotypes Associated with This Genotype
Genotype
MGI:3589971
Allelic
Composition
Foxp3sf/Y
Genetic
Background
involves: 101/H * C3H/HeH * STOCK MR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxp3sf mutation (5 available); any Foxp3 mutation (41 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• death occurs as early as P18 and most die between 19 and 22 days, although a few survive to 30 days

growth/size/body
• from 14-18 days there is a marked retardation of growth although animals are normal in size before then

vision/eye
• closed eyelids in almost all 14 day or older mice due to conjunctivitis
• eyelid aperature is small

hearing/vestibular/ear

reproductive system
• reddening and swelling of the genital papilla at P12-14
• testes are abdominal or inguinal
• reproductive structures are extremely underdeveloped

immune system
• hyperplasia of the red pulp
• architecture of the spleen is disrupted, with white and red pulp intermingling
• about four times the normal weight
• hyperplasia of the white pulp

hematopoietic system
• persistence of hematopoiesis in the liver
• become pale and anemic 2-3 days before death
• depletion of the number of megakaryocytes with age in the bone marrow
• megakaryocytes are reduced at 13 days of age, more reduced at 17 days of age, and almost absent from the spleen at 20 days of age
• low at birth and decrease as disease progresses
• older animals exhibit hypochromic red blood cells
• low at birth and decrease as disease progresses
• increased reticulocyte count
• hyperplasia of the red pulp
• architecture of the spleen is disrupted, with white and red pulp intermingling
• about four times the normal weight
• hyperplasia of the white pulp

liver/biliary system
• liver is dotted with yellow foci in some animals, suggesting infection

renal/urinary system

behavior/neurological
• become lethargic the day before death

cardiovascular system

digestive/alimentary system
• some mice have diarrhea from the age of 14-15 days
• blood in feces is seen 2-3 days before death

respiratory system

endocrine/exocrine glands
• testes are abdominal or inguinal

craniofacial

integument
• first visible on the underside of the tail and later on other body parts

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Wiskott-Aldrich syndrome DOID:9169 OMIM:301000
J:10398


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/13/2019
MGI 6.13
The Jackson Laboratory