Foxp3^sf
Spontaneous Allele Detail

Summary

• Symbol: Foxp3^sf
• Name: forkhead box P3; scurfy
• MGI ID: MGI:1857034
• Synonyms: Scurfy, sf
• Gene: Foxp3 Location: ChrX:7445915-7461482 bp, + strand Genetic Position: ChrX, 3.41 cM
• Alliance: Foxp3^sf page

Mutation origin

• Strain of Origin: STOCK MR

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• Mutation details: Insertion of two adenosine residues into exon 8, resulting in a 2 bp shift in the reading frame. This allele is predicted to produce a truncated protein lacking the carboxy-terminal forkhead domain. (J:66695)
• Inheritance: Recessive

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)

	Allelic Composition	Genetic Background	Cell Line(s)
Loading...
cn1	Ctps1^tm1c(KOMP)Wtsi/Ctps1^tm1c(KOMP)Wtsi Tg(Cd4-cre)1Cwi/0 Foxp3^sf/Y Rag1^tm1Mom/Rag1^+	mixed
cx2	Foxp3^sfOtc^spf/Y	involves: 129/Rl
cx3	Cd4^tm1Litt/Cd4^tm1Litt Foxp3^sfOtc^spf/Y	involves: 129/Rl * 129S2/SvPas
cx4	B2m^tm1Jae/B2m^tm1Jae Foxp3^sfOtc^spf/Y	involves: 129/Rl * 129S2/SvPas
cx5	Foxp3^sf/Foxp3^sf Tg(Rorc-EGFP)1Ebe/?	involves: C57BL/6
ot6  Disease Model	Foxp3^sf/Y	B6.Cg-Foxp3^sf
ot7	Foxp3^sf/Y	B6.Cg-Foxp3^sf/J
ot8  Disease Model	Foxp3^sf/Y	either: 129Rl.Cg-Foxp3^sf or (involves: 101/Rl * C3Hf/Rl * STOCK MR)
ot9  Disease Model	Foxp3^sf/Y	involves: 101/H * C3H/HeH * STOCK MR
ot10	Foxp3^sf/Y	involves: STOCK MR
ot11	Foxp3^sf/0	involves: STOCK MR
ot12	Foxp3^sf/?	Not Specified

Phenotypes:

Affected Systems	cn1		cx2	cx3	cx4	cx5	ot6	ot7	ot8		ot9	ot10	ot11	ot12
show or hide all annotated terms Sex:
behavior/neurological										√	√
lethargy											√
hunched posture										√
cardiovascular system										√	√
dilated liver sinusoidal space										√
enlarged heart										√
gastrointestinal hemorrhage											√
cellular		√
decreased T cell proliferation		√
craniofacial										√	√
scaly ears										√
small ears										√	√
thick ears										√
digestive/alimentary system								√			√
gastrointestinal hemorrhage											√
diarrhea											√
melena											√
short perineum											√
salivary gland inflammation								√
endocrine/exocrine glands	√	√						√		√	√	√
salivary gland inflammation								√
abnormal thymus morphology										√
abnormal thymus cortex morphology										√
small thymus										√
thymus hypoplasia	√	√
absent prostate gland anterior lobe												√
absent seminal vesicle												√
small testis										√		√
cryptorchism										√	√	√
growth/size/body		√	√		√					√	√	√
enlarged heart										√
scaly ears										√
small ears										√	√
thick ears										√
decreased body size					√					√	√	√
decreased body weight		√	√								√
cachexia										√
postnatal growth retardation											√
distended abdomen										√
enlarged liver										√	√
enlarged spleen		√	√		√
increased spleen weight										√	√
hearing/vestibular/ear										√	√
scaly ears										√
small ears										√	√
thick ears										√
hematopoietic system	√	√	√	√	√	√	√			√	√
decreased T cell proliferation		√
abnormal thymus morphology										√
abnormal thymus cortex morphology										√
small thymus										√
thymus hypoplasia	√	√
extramedullary hematopoiesis										√	√
anemia			√		√					√	√
decreased megakaryocyte cell number							√				√
abnormal megakaryocyte progenitor cell morphology							√
abnormal erythrocyte morphology										√	√
decreased erythrocyte cell number											√
decreased hematocrit			√		√					√	√
decreased hemoglobin content										√	√
increased mean corpuscular volume										√
anisocytosis										√
poikilocytosis										√
polychromatophilia										√
thrombocytopenia							√				√
increased mean platelet volume							√
increased leukocyte cell number										√	√
abnormal lymphocyte morphology										√
increased plasma cell number					√
decreased regulatory T cell number		√
abnormal effector T cell morphology						√
abnormal CD4-positive, alpha beta T cell morphology							√
decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number							√
increased CD4-positive, alpha-beta T cell number			√		√
abnormal CD8-positive, alpha beta T cell morphology				√
abnormal macrophage morphology										√
abnormal reticulocyte morphology											√
abnormal spleen morphology										√	√
enlarged spleen		√	√		√
increased spleen weight										√	√
increased spleen red pulp amount										√	√
abnormal spleen white pulp morphology										√
intermingled spleen red and white pulp											√
decreased spleen B cell follicle number										√
absent spleen marginal zone										√
increased spleen white pulp amount											√
abnormal B cell physiology										√
increased immunoglobulin level					√
increased IgG level				√	√					√
increased IgM level				√	√					√
abnormal CD4-positive, alpha-beta T cell physiology							√
homeostasis/metabolism					√		√		√	√
abnormal homeostasis							√
abnormal atrial thrombosis										√
pleural effusion										√
hemosiderosis									√	√
abnormal interleukin level					√
abnormal tumor necrosis factor level					√
immune system	√	√	√	√	√	√	√	√		√	√			√
decreased T cell proliferation		√
increased leukocyte cell number										√	√
abnormal lymphocyte morphology										√
increased plasma cell number					√
decreased regulatory T cell number		√
abnormal effector T cell morphology						√
abnormal CD4-positive, alpha beta T cell morphology							√
decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number							√
increased CD4-positive, alpha-beta T cell number			√		√
abnormal CD8-positive, alpha beta T cell morphology				√
abnormal macrophage morphology										√
abnormal B cell physiology										√
increased immunoglobulin level					√
increased IgG level				√	√					√
increased IgM level				√	√					√
abnormal CD4-positive, alpha-beta T cell physiology							√
abnormal interleukin level					√
abnormal tumor necrosis factor level					√
abnormal immune system organ morphology				√	√
abnormal thymus morphology										√
abnormal thymus cortex morphology										√
small thymus										√
thymus hypoplasia	√	√
abnormal spleen morphology										√	√
enlarged spleen		√	√		√
increased spleen weight										√	√
increased spleen red pulp amount										√	√
abnormal spleen white pulp morphology										√
intermingled spleen red and white pulp											√
decreased spleen B cell follicle number										√
absent spleen marginal zone										√
increased spleen white pulp amount											√
abnormal lymph node morphology					√					√
abnormal lymph node B cell domain morphology										√
abnormal lymph node T cell domain morphology										√
abnormal lymph node medullary cord morphology										√
enlarged lymph nodes			√	√	√					√
abnormal cytokine secretion				√
increased interleukin-4 secretion				√
increased interleukin-6 secretion				√
increased tumor necrosis factor secretion				√
decreased inflammatory response		√
increased inflammatory response										√
salivary gland inflammation								√
blepharitis										√
conjunctivitis											√
liver inflammation										√				√
lung inflammation								√						√
skin inflammation								√
dermatitis					√					√
integument			√		√			√		√	√	√	√
skin inflammation								√
dermatitis					√					√
abnormal epidermal layer morphology										√
orthokeratosis										√
parakeratosis										√
epidermal hyperplasia										√
scaly skin										√	√	√	√
skin lesions			√							√
tight skin											√	√	√
abnormal tail ring morphology										√
liver/biliary system										√	√			√
liver inflammation										√				√
abnormal liver morphology										√	√
dilated liver sinusoidal space										√
enlarged liver										√	√
abnormal hepatic cord morphology										√
multifocal hepatic necrosis										√
pale liver											√
jaundice										√
mortality/aging			√	√						√	√	√	√
lethality at weaning, complete penetrance											√
premature death			√	√						√		√
postnatal lethality												√	√
postnatal lethality, incomplete penetrance			√
renal/urinary system										√	√
pale kidney										√	√
reproductive system										√	√	√
short perineum											√
abnormal male reproductive system morphology										√	√	√
absent prostate gland anterior lobe												√
absent seminal vesicle												√
cryptorchism										√	√	√
absent scrotum											√	√
small gonad											√	√
small testis										√		√
male infertility												√
respiratory system								√		√	√			√
pleural effusion										√
lung inflammation								√						√
abnormal breathing pattern											√
vision/eye										√	√	√	√
blepharitis										√
conjunctivitis											√
narrow eye opening											√
delayed eyelid opening												√	√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	ot6	ot8	ot9	ot10
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome IDs immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome       DOID:0090110 ICD10CM:E31.0 MESH:C580192 OMIM:304790 ORDO:37042 Close	√	√
Wiskott-Aldrich syndrome IDs Wiskott-Aldrich syndrome       DOID:9169 ICD10CM:D82.0 ICD9CM:279.12 MESH:D014923 NCI:C3448 OMIM:301000 UMLS_CUI:C0043194 Close			√
X-linked ichthyosis IDs X-linked ichthyosis       DOID:1700 ICD10CM:Q80.1 MESH:D016114 NCI:C84779 OMIM:308100 UMLS_CUI:C0079588 Close

Expression

In Structures Affected by this Mutation:

30 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 5 strains available Cell Lines: 0 lines available
• Carrying any Foxp3 Mutation: 58 strains or lines available

References

• Original: J:13126 Russell WL, et al., Exceptional inheritance of a sex-linked gene in the mouse explained on the basis that the X/O sex-chromosome constitution is female. Proc Natl Acad Sci U S A. 1959 Apr;45(4):554-560
• All: 141 reference(s)