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Phenotypes Associated with This Genotype
Genotype
MGI:3695413
Allelic
Composition
Sharpincpdm/Sharpincpdm
Genetic
Background
C57BL/KaLawRij-Sharpincpdm
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sharpincpdm mutation (1 available); any Sharpin mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• lesions, lesions comparable to skin lesions, are observed starting at 4 weeks; lesions are immediately moderate to severe (J:31745)
• lesions, lesions comparable to skin lesions, are observed starting at 4 weeks; lesions are immediately moderate to severe (J:31745)
• lesions, lesions comparable to skin lesions but no parakeratosis, are observed starting at 4 weeks; most severe at junction of forestomach and glandular stomach, but not as severe as in esophagus (J:31745)
• infliltrating eosinophils form intraepithelial and intracorneal pustules (J:31745)
• lesions, lesions comparable to skin lesions but no parakeratosis, are observed starting at 4 weeks; most severe at junction of forestomach and glandular stomach, but not as severe as in esophagus (J:31745)
• infliltrating eosinophils form intraepithelial and intracorneal pustules (J:31745)
• mutants have increased counts of eosinophilic alveolar macrophages (J:14539)
• mutants have increased counts of eosinophilic alveolar macrophages (J:14539)
• eosinophil infiltration of red and white pulp of spleen is seen starting at 4 weeks of age (J:31745)
• eosinophil infiltration of red and white pulp of spleen is seen starting at 4 weeks of age (J:31745)
• numbers are significantly increased in dermis at 6-8 weeks (171/sq. mm) and increase with age (594/sq.mm at 28-30 weeks) (J:14539)
• numbers are significantly increased in dermis at 6-8 weeks (171/sq. mm) and increase with age (594/sq.mm at 28-30 weeks) (J:14539)
• 6 week old mice have increased mast cell numbers compared to controls (213/sq.mm vs 82/sq.mm) (J:31745)
• 6 week old mice have increased mast cell numbers compared to controls (213/sq.mm vs 82/sq.mm) (J:31745)
• numbers of B lymphocytes are slightly decreased in mutant spleen at 6-12 weeks of age (J:53575)
• numbers of B lymphocytes are slightly decreased in mutant spleen at 6-12 weeks of age (J:53575)
• numbers are moderately decreased in mutant spleen (J:53575)
• numbers are moderately decreased in mutant spleen (J:53575)
• percentage of cell is significantly reduced (16.8% in control vs 8.5%) (J:53575)
• percentage of cell is significantly reduced (16.8% in control vs 8.5%) (J:53575)
• atrophy of lymphoid tissue with increasing age is observed (J:14539)
• atrophy of lymphoid tissue with increasing age is observed (J:14539)
• 3- to 6-fold increase in spleen size is observed (J:14539)
• 3- to 6-fold increase in spleen size is observed (J:14539)
• spleens in mutants are enlarged 3- to 5-fold due to extramedullary hematopoiesis (J:53575)
• spleens in mutants are enlarged 3- to 5-fold due to extramedullary hematopoiesis (J:53575)
• white pulp is poorly defined at 6-12 weeks of age (J:53575)
• white pulp is poorly defined at 6-12 weeks of age (J:53575)
• spleens have no defined follicles and germinal centers are absent (J:53575)
• spleens have no defined follicles and germinal centers are absent (J:53575)
• no evidence of a marginal zone is found (J:53575)
• no evidence of a marginal zone is found (J:53575)
• absent but controls have 5-7; no rudimentary PPs are found in the small intestine of mutants (J:53575)
• absent but controls have 5-7; no rudimentary PPs are found in the small intestine of mutants (J:53575)
• at >28 weeks of age, heavily laden melanocytes are present in draining lymph nodes (J:14539)
• at >28 weeks of age, heavily laden melanocytes are present in draining lymph nodes (J:14539)
• peripheral lymph nodes draining the skin are swollen, having a thin cortex without clearly defined follicles, and large numbers of eosinophils in the medulla (J:53575)
• peripheral lymph nodes draining the skin are swollen, having a thin cortex without clearly defined follicles, and large numbers of eosinophils in the medulla (J:53575)
• nodes are small, with medulla and occasionally entire lymph node replaced with connective tissue (J:53575)
• nodes are small, with medulla and occasionally entire lymph node replaced with connective tissue (J:53575)
• at age of 3 weeks, deep and superficial cervical, thoracic, axillary and brachial lymph nodes and spleen are mildly enlarged (J:31745)
• at age of 3 weeks, deep and superficial cervical, thoracic, axillary and brachial lymph nodes and spleen are mildly enlarged (J:31745)
• 4 weeks after immunization with DNP-KLH (DNP-keyhole limpet hemocyanin), DNP-specific antibody titers are lower in mutants than control (J:53575)
• 4 weeks after immunization with DNP-KLH (DNP-keyhole limpet hemocyanin), DNP-specific antibody titers are lower in mutants than control (J:53575)
• levels in feces are significantly increased compared to controls (J:53575)
• levels in feces are significantly increased compared to controls (J:53575)
• after immunization with DNP-KLH, reductions in DNP-specific IgM (2-fold), IgG3 (4-fold), IgG1 (12-fold), IgG2a (37-fold) and IgG2b (7-fold) antibodies is observed in mutants (J:53575)
• after immunization with DNP-KLH, reductions in DNP-specific IgM (2-fold), IgG3 (4-fold), IgG1 (12-fold), IgG2a (37-fold) and IgG2b (7-fold) antibodies is observed in mutants (J:53575)
• total IgA is significantly lower in serum compared to controls; IgA in feces is greatly reduced at 6-12 weeks of age (J:53575)
• total IgA is significantly lower in serum compared to controls; IgA in feces is greatly reduced at 6-12 weeks of age (J:53575)
• serum levels are decreased ~10-fold compared to controls (J:31745)
• serum levels are decreased ~10-fold compared to controls (J:31745)
• total IgE is significantly lower in serum (J:53575)
• total IgE is significantly lower in serum (J:53575)
• total IgG is significantly lower in serum (J:53575)
• total IgG is significantly lower in serum (J:53575)
• at 1 week of age, deep and superficial cervical, thoracic, axillary and brachial lymph nodes display acute lymphadenitis and perilymphadenitis with eosinophil infiltration of cortex and medulla, varying from mild to severe (J:31745)
• at 1 week of age, deep and superficial cervical, thoracic, axillary and brachial lymph nodes display acute lymphadenitis and perilymphadenitis with eosinophil infiltration of cortex and medulla, varying from mild to severe (J:31745)
• folliculitis with some degenerated hair shafts is observed at 3 weeks of age (J:31745)
• folliculitis with some degenerated hair shafts is observed at 3 weeks of age (J:31745)
• at 20 weeks of age, synovia and periarticular and peritendinous connective tissues are infiltrated by low to moderate number of macrophages and neutrophils, frequently affecting coxofemoral, tibiofemoral, and invertebral joints, and knee tendons; more common in female mice (J:14539)
• at 20 weeks of age, synovia and periarticular and peritendinous connective tissues are infiltrated by low to moderate number of macrophages and neutrophils, frequently affecting coxofemoral, tibiofemoral, and invertebral joints, and knee tendons; more common in female mice (J:14539)
• lesions are observed from 1 week of age; inflammatory cells are mainly eosinophils with some monocytes (J:31745)
• lesions are observed from 1 week of age; inflammatory cells are mainly eosinophils with some monocytes (J:31745)
• mice develop dermatitis with associated skin lesions starting at 2-3 weeks of age (J:14539)
• mice develop dermatitis with associated skin lesions starting at 2-3 weeks of age (J:14539)

hematopoietic system
• marked, accounts for splenomegaly (J:14539)
• marked, accounts for splenomegaly (J:14539)
• at 2 weeks of age, mutants show moderate extramedullary myelopoiesis in liver and spleen (J:31745)
• at 2 weeks of age, mutants show moderate extramedullary myelopoiesis in liver and spleen (J:31745)
• bone marrow is hyperplastic with extensive myelopoiesis (J:14539)
• bone marrow is hyperplastic with extensive myelopoiesis (J:14539)
• mutants have increased counts of eosinophilic alveolar macrophages (J:14539)
• mutants have increased counts of eosinophilic alveolar macrophages (J:14539)
• eosinophil infiltration of red and white pulp of spleen is seen starting at 4 weeks of age (J:31745)
• eosinophil infiltration of red and white pulp of spleen is seen starting at 4 weeks of age (J:31745)
• numbers are significantly increased in dermis at 6-8 weeks (171/sq. mm) and increase with age (594/sq.mm at 28-30 weeks) (J:14539)
• numbers are significantly increased in dermis at 6-8 weeks (171/sq. mm) and increase with age (594/sq.mm at 28-30 weeks) (J:14539)
• 6 week old mice have increased mast cell numbers compared to controls (213/sq.mm vs 82/sq.mm) (J:31745)
• 6 week old mice have increased mast cell numbers compared to controls (213/sq.mm vs 82/sq.mm) (J:31745)
• numbers of B lymphocytes are slightly decreased in mutant spleen at 6-12 weeks of age (J:53575)
• numbers of B lymphocytes are slightly decreased in mutant spleen at 6-12 weeks of age (J:53575)
• numbers are moderately decreased in mutant spleen (J:53575)
• numbers are moderately decreased in mutant spleen (J:53575)
• percentage of cell is significantly reduced (16.8% in control vs 8.5%) (J:53575)
• percentage of cell is significantly reduced (16.8% in control vs 8.5%) (J:53575)
• 3- to 6-fold increase in spleen size is observed (J:14539)
• 3- to 6-fold increase in spleen size is observed (J:14539)
• spleens in mutants are enlarged 3- to 5-fold due to extramedullary hematopoiesis (J:53575)
• spleens in mutants are enlarged 3- to 5-fold due to extramedullary hematopoiesis (J:53575)
• white pulp is poorly defined at 6-12 weeks of age (J:53575)
• white pulp is poorly defined at 6-12 weeks of age (J:53575)
• spleens have no defined follicles and germinal centers are absent (J:53575)
• spleens have no defined follicles and germinal centers are absent (J:53575)
• no evidence of a marginal zone is found (J:53575)
• no evidence of a marginal zone is found (J:53575)
• levels in feces are significantly increased compared to controls (J:53575)
• levels in feces are significantly increased compared to controls (J:53575)
• after immunization with DNP-KLH, reductions in DNP-specific IgM (2-fold), IgG3 (4-fold), IgG1 (12-fold), IgG2a (37-fold) and IgG2b (7-fold) antibodies is observed in mutants (J:53575)
• after immunization with DNP-KLH, reductions in DNP-specific IgM (2-fold), IgG3 (4-fold), IgG1 (12-fold), IgG2a (37-fold) and IgG2b (7-fold) antibodies is observed in mutants (J:53575)
• total IgA is significantly lower in serum compared to controls; IgA in feces is greatly reduced at 6-12 weeks of age (J:53575)
• total IgA is significantly lower in serum compared to controls; IgA in feces is greatly reduced at 6-12 weeks of age (J:53575)
• serum levels are decreased ~10-fold compared to controls (J:31745)
• serum levels are decreased ~10-fold compared to controls (J:31745)
• total IgE is significantly lower in serum (J:53575)
• total IgE is significantly lower in serum (J:53575)
• total IgG is significantly lower in serum (J:53575)
• total IgG is significantly lower in serum (J:53575)

growth/size/body
• at 2 weeks of age, first lesions of epithelium are seen; lesions are immediately moderate to severe (J:31745)
• at 2 weeks of age, first lesions of epithelium are seen; lesions are immediately moderate to severe (J:31745)
• weight reduction is observed from age of 5 weeks (7%) and at 6 weeks reduction of 12% is observed (J:31745)
• weight reduction is observed from age of 5 weeks (7%) and at 6 weeks reduction of 12% is observed (J:31745)
• mice show moderate growth retardation with aging (J:14539)
• mice show moderate growth retardation with aging (J:14539)

homeostasis/metabolism
• mild spongiosis (intracellular edema) of the epidermis is seen occasionally (J:14539)
• mild spongiosis (intracellular edema) of the epidermis is seen occasionally (J:14539)

digestive/alimentary system
• at 2 weeks of age, first lesions of epithelium are seen; lesions are immediately moderate to severe (J:31745)
• at 2 weeks of age, first lesions of epithelium are seen; lesions are immediately moderate to severe (J:31745)
• at 20 weeks, similar changes to those seen in epidermis are found, with exception of parakeratosis (J:14539)
• thickness of esophageal epithelium is increased from 38.2 um to 75.4 um in mutants; less severe in aged mice (J:14539)
• lesions are prominent, with spongiform pustules occurring in esophagus (J:14539)
• at 20 weeks, similar changes to those seen in epidermis are found, with exception of parakeratosis (J:14539)
• thickness of esophageal epithelium is increased from 38.2 um to 75.4 um in mutants; less severe in aged mice (J:14539)
• lesions are prominent, with spongiform pustules occurring in esophagus (J:14539)
• lesions, lesions comparable to skin lesions, are observed starting at 4 weeks; lesions are immediately moderate to severe (J:31745)
• lesions, lesions comparable to skin lesions, are observed starting at 4 weeks; lesions are immediately moderate to severe (J:31745)
• at 20 weeks, similar changes to those seen in epidermis are found, with exception of parakeratosis (J:14539)
• thickness of forestomach epithelium is increased from 34.1 um to 68.9 um in mutants; less severe in aged mice (J:14539)
• at 20 weeks, similar changes to those seen in epidermis are found, with exception of parakeratosis (J:14539)
• thickness of forestomach epithelium is increased from 34.1 um to 68.9 um in mutants; less severe in aged mice (J:14539)
• lesions, lesions comparable to skin lesions, are observed starting at 4 weeks; lesions are immediately moderate to severe (J:31745)
• lesions, lesions comparable to skin lesions, are observed starting at 4 weeks; lesions are immediately moderate to severe (J:31745)
• lesions, lesions comparable to skin lesions but no parakeratosis, are observed starting at 4 weeks; most severe at junction of forestomach and glandular stomach, but not as severe as in esophagus (J:31745)
• infliltrating eosinophils form intraepithelial and intracorneal pustules (J:31745)
• lesions, lesions comparable to skin lesions but no parakeratosis, are observed starting at 4 weeks; most severe at junction of forestomach and glandular stomach, but not as severe as in esophagus (J:31745)
• infliltrating eosinophils form intraepithelial and intracorneal pustules (J:31745)

liver/biliary system
• portal and perivascular areas in liver are infiltrated by neutrophils and macrophages (J:14539)
• portal and perivascular areas in liver are infiltrated by neutrophils and macrophages (J:14539)
• at 3 weeks, small perivascular infiltrates of eosinophils and macrophages are observed, with progressive severity (J:31745)
• at 3 weeks, small perivascular infiltrates of eosinophils and macrophages are observed, with progressive severity (J:31745)

reproductive system
• females are infertile (J:14539)
• females are infertile (J:14539)
• males older than 11 weeks show reduced fertility (J:31745)
• males older than 11 weeks show reduced fertility (J:31745)

respiratory system
• lesions are observed from 1 week of age; inflammatory cells are mainly eosinophils with some monocytes (J:31745)
• lesions are observed from 1 week of age; inflammatory cells are mainly eosinophils with some monocytes (J:31745)
• perivascular and peribronchiolar connective tissues of lung show similar, but less conspicuous infiltrations (J:14539)
• perivascular and peribronchiolar connective tissues of lung show similar, but less conspicuous infiltrations (J:14539)

skeleton
• at 20 weeks of age, synovia and periarticular and peritendinous connective tissues are infiltrated by low to moderate number of macrophages and neutrophils, frequently affecting coxofemoral, tibiofemoral, and invertebral joints, and knee tendons; more common in female mice (J:14539)
• at 20 weeks of age, synovia and periarticular and peritendinous connective tissues are infiltrated by low to moderate number of macrophages and neutrophils, frequently affecting coxofemoral, tibiofemoral, and invertebral joints, and knee tendons; more common in female mice (J:14539)
• synovial space is often dilated, containing some neutrophils and proteinaceous material (J:14539)
• synovial space is often dilated, containing some neutrophils and proteinaceous material (J:14539)

cardiovascular system
• blood vessel proliferation in dermis is observed, with tortuous dilated capillaries present in superficial dermis (J:14539)
• blood vessel proliferation in dermis is observed, with tortuous dilated capillaries present in superficial dermis (J:14539)

vision/eye
• first sign of phenotypic change is thickening of eyelids, no earlier than 2 weeks of age (J:31745)
• first sign of phenotypic change is thickening of eyelids, no earlier than 2 weeks of age (J:31745)

craniofacial
• at 2 weeks of age, first lesions of epithelium are seen; lesions are immediately moderate to severe (J:31745)
• at 2 weeks of age, first lesions of epithelium are seen; lesions are immediately moderate to severe (J:31745)

integument
• single cell death of keratinocytes in epidermis is seen (J:14539)
• single cell death of keratinocytes in epidermis is seen (J:14539)
• some apoptosis is observed starting at 3 weeks (J:31745)
• some apoptosis is observed starting at 3 weeks (J:31745)
• 24 hours after i.p. injection of tumor necrosis factor into ears, there is marked apoptosis in epidermis of mutants at 6-12 weeks of age (J:53575)
• 24 hours after i.p. injection of tumor necrosis factor into ears, there is marked apoptosis in epidermis of mutants at 6-12 weeks of age (J:53575)
• epidermal thickness is increased due to keratinocyte proliferation (J:31745)
• epidermal thickness is increased due to keratinocyte proliferation (J:31745)
• mild spongiosis (intracellular edema) of the epidermis is seen occasionally (J:14539)
• mild spongiosis (intracellular edema) of the epidermis is seen occasionally (J:14539)
• mice develop dermatitis with associated skin lesions starting at 2-3 weeks of age (J:14539)
• mice develop dermatitis with associated skin lesions starting at 2-3 weeks of age (J:14539)
• at 3 weeks, affected mice have thinner fur than controls (J:31745)
• at 3 weeks, affected mice have thinner fur than controls (J:31745)
• clinical alopecia develops by 5 weeks of age and becomes progressively worse (J:68129)
• clinical alopecia develops by 5 weeks of age and becomes progressively worse (J:68129)
• beginning at 5 weeks of age, affected mice develop hair loss (J:14539)
• beginning at 5 weeks of age, affected mice develop hair loss (J:14539)
• at 4 weeks, dorsal neck and ventral chest develop hair loss (J:31745)
• at 4 weeks, dorsal neck and ventral chest develop hair loss (J:31745)
• epidermal changes along hair shafts result in hair shaft degeneration (J:14539)
• epidermal changes along hair shafts result in hair shaft degeneration (J:14539)
• epidermal changes along hair shafts result in follicular keratosis (J:14539)
• increased numbers of proliferating cells are found (J:14539)
• epidermal changes along hair shafts result in follicular keratosis (J:14539)
• increased numbers of proliferating cells are found (J:14539)
• folliculitis with some degenerated hair shafts is observed at 3 weeks of age (J:31745)
• folliculitis with some degenerated hair shafts is observed at 3 weeks of age (J:31745)
• in mice >28 weeks of age, dendritic cells with melanin granules are found in dermis and epidermis; heavily laden melanocytes are present in dermis (J:14539)
• in mice >28 weeks of age, dendritic cells with melanin granules are found in dermis and epidermis; heavily laden melanocytes are present in dermis (J:14539)
• inflammatory cells, predominantly granulocytes and macrophages (J:14539)
• fewer neutrophils are observed in dermis and epidermis in aged mice (>28 weeks) (J:14539)
• inflammatory cells, predominantly granulocytes and macrophages (J:14539)
• fewer neutrophils are observed in dermis and epidermis in aged mice (>28 weeks) (J:14539)
• in excess of controls, observed from 1 week of age, and progresses to greater severity at 4 weeks (J:31745)
• in excess of controls, observed from 1 week of age, and progresses to greater severity at 4 weeks (J:31745)
• 24 hours after i.p. injection of tumor necrosis factor into ears, mutant ears show less infiltration by neutrophils and fewer macrophages at 6-12 weeks of age (J:53575)
• 24 hours after i.p. injection of tumor necrosis factor into ears, mutant ears show less infiltration by neutrophils and fewer macrophages at 6-12 weeks of age (J:53575)
• mild spongiosis (edema) of the epidermis is seen occasionally (J:14539)
• mild spongiosis (edema) of the epidermis is seen occasionally (J:14539)
• basal cell layer shows increased mitosis (J:14539)
• basal cell layer shows increased mitosis (J:14539)
• thickness is increased due to cell proliferation at 4 weeks (J:31745)
• thickness is increased due to cell proliferation at 4 weeks (J:31745)
• some animals display intracorneal microabcesses at 5 weeks (J:31745)
• some animals display intracorneal microabcesses at 5 weeks (J:31745)
• at 4 weeks (J:31745)
• at 4 weeks (J:31745)
• multifocal, observed at 4 weeks (J:31745)
• multifocal, observed at 4 weeks (J:31745)
• layer is thicker or of normal thickness and absent beneath parakeratotic mounds in mutants (J:14539)
• some degenerated granulocytes mix with parakeratotic mounds and form microabscesses in keratotic layer (J:14539)
• layer is thicker or of normal thickness and absent beneath parakeratotic mounds in mutants (J:14539)
• some degenerated granulocytes mix with parakeratotic mounds and form microabscesses in keratotic layer (J:14539)
• observed at 4 weeks (J:31745)
• observed at 4 weeks (J:31745)
• interfollicular epidermis is thickened (from 8.8 um to 55.6 um) (J:14539)
• interfollicular epidermis is thickened (from 8.8 um to 55.6 um) (J:14539)
• significantly increased at 4 weeks compared to control, showing increased cellular proliferation (J:31745)
• significantly increased at 4 weeks compared to control, showing increased cellular proliferation (J:31745)
• beginning at 5 weeks of age, reddening of skin of dorsal neck and ventral chest is observed, spreading to most skin, except tail, feet, and ear pinnae by 12-15 weeks (J:14539)
• beginning at 5 weeks of age, reddening of skin of dorsal neck and ventral chest is observed, spreading to most skin, except tail, feet, and ear pinnae by 12-15 weeks (J:14539)
• at 3 weeks, reddening of the axilla is observed, such that mutants can all be identified (J:31745)
• at 3 weeks, reddening of the axilla is observed, such that mutants can all be identified (J:31745)
• at 4 weeks, dorsal neck and ventral chest develop mild scaling (J:31745)
• at 4 weeks, dorsal neck and ventral chest develop mild scaling (J:31745)
• scaling skin is found by 5 weeks of age and becomes progressively worse (J:68129)
• scaling skin is found by 5 weeks of age and becomes progressively worse (J:68129)
• lesions are characterized by erythema, severe hair loss, and mild scaling at 20 weeks of age (J:14539)
• lesions are similar in aged mice (28-30 weeks of age) (J:14539)
• lesions are characterized by erythema, severe hair loss, and mild scaling at 20 weeks of age (J:14539)
• lesions are similar in aged mice (28-30 weeks of age) (J:14539)
• lesions progress with age, from 2-3 weeks; at 6 weeks, lesions are extensive and severe (J:31745)
• lesions progress with age, from 2-3 weeks; at 6 weeks, lesions are extensive and severe (J:31745)
• after 5 weeks of age, mice suffer from severe pruritus (itching) demonstrated by severe scratching (J:31745)
• after 5 weeks of age, mice suffer from severe pruritus (itching) demonstrated by severe scratching (J:31745)

cellular
• single cell death of keratinocytes in epidermis is seen (J:14539)
• single cell death of keratinocytes in epidermis is seen (J:14539)
• some apoptosis is observed starting at 3 weeks (J:31745)
• some apoptosis is observed starting at 3 weeks (J:31745)
• 24 hours after i.p. injection of tumor necrosis factor into ears, there is marked apoptosis in epidermis of mutants at 6-12 weeks of age (J:53575)
• 24 hours after i.p. injection of tumor necrosis factor into ears, there is marked apoptosis in epidermis of mutants at 6-12 weeks of age (J:53575)
• epidermal thickness is increased due to keratinocyte proliferation (J:31745)
• epidermal thickness is increased due to keratinocyte proliferation (J:31745)

Mouse Models of Human Disease
OMIM ID Ref(s)
Dermatitis, Atopic 603165 J:14539 , J:31745 , J:116833


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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory