All Phenotypes St14<tm2Bug> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	St14^tm2Bug/St14^tm2Bug	involves: 129P2/OlaHsd	MGI:2683727
cn2	St14^tm2Bug/St14^tm3Bug Tg(CAG-cre/Esr1*)5Amc/0	involves: 129P2/OlaHsd * 129S6/SvEvTac * Black Swiss * C57BL/6 * CBA	MGI:4361221
cn3	St14^tm2Bug/St14^tm3Bug Tg(Vil1-cre)997Gum/0	involves: 129P2/OlaHsd * 129S6/SvEvTac * Black Swiss * C57BL/6 * SJL	MGI:4361214
cn4	St14^tm2Bug/St14^tm3Bug Tg(MMTV-cre)4Mam/0	involves: 129P2/OlaHsd * 129S6/SvEvTac * Black Swiss * FVB	MGI:4361220
cn5	St14^tm2Bug/St14^tm3Bug Tg(MMTV-cre)4Mam/0	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J * FVB/NJ * N:Black Swiss	MGI:5634327

Allelic Composition	St14^tm2Bug/St14^tm2Bug
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
St14^tm2Bug mutation (0 available); any St14 mutation (45 available)

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

homeostasis/metabolism

impaired skin barrier function ( J:86715 )

• defects in stratum corneum (SC) formation result in total loss of epidermal barrier function

• epidermal defects are associated with selective loss of both proteolytically processed filaggrin monomer units and the NH2-terminal filaggrin S-100 regulatory protein, with severe accumulation of profilaggrin and aberrant profilaggrin-processing products in the SC

• epidermal deficiency is not corrected with time or by systemic expression of Matriptase/MT-SP1

• prolonged exposure of neonatal mutant transplanted skin to dehydration (air) leads to severe compensatory hyperproliferative ichthyosis

integument

abnormal keratinocyte differentiation ( J:86715 )

• newborn homozygotes exhibit defective proteolytic processing of profilaggrin and incorporation of aberrantly processed profilaggrin into the SC during terminal corneocyte differentiation

impaired skin barrier function ( J:86715 )

• defects in stratum corneum (SC) formation result in total loss of epidermal barrier function

• epidermal deficiency is not corrected with time or by systemic expression of Matriptase/MT-SP1

• prolonged exposure of neonatal mutant transplanted skin to dehydration (air) leads to severe compensatory hyperproliferative ichthyosis

alopecia ( J:86715 )

• at 3 wks after transplantation onto nude mice, neonatal mutant skin displays absence of erupted pelage hairs; only a few pelage hair shafts are found as thin, broken fibers surrounded by dense sheaths of cornified debris

abnormal epidermis stratum corneum morphology ( J:86715 )

• newborn homozygotes display numerous defects in stratum corneum (SC) formation

enlarged corneocyte envelope ( J:86715 )

• mutant corneocyte envelopes (CEs) isolated from newborn homozygotes are enlarged by 15% relative to wild-type CEs

• however, the shape, surface morphology, and mechanical integrity of mutant CEs remain unaffected

abnormal stratum corneum lipid matrix formation ( J:86715 )

• newborn homozygotes exhibit lipid matrix defects, as shown by a ~50% reduction in free fatty acids, a ~25% increase in cholesterol, and a nearly 10-fold decrease in sterol esters in total epidermis and SC, along with a >2-fold increase in phospholipid content in the SC relative to control littermates

• mutant intercorneocyte lipids appear poorly organized with short and misaligned lipid lamellae

hyperkeratosis ( J:86715 )

• at 3 wks after transplantation onto nude mice, neonatal mutant skin displays severe hyperkeratosis, associated with hyperproliferation of basal keratinocytes and keratin-6 overexpression

impaired stratum corneum desquamation ( J:86715 )

• unlike wild-type controls, where the SC is completely removed exposing the lower epidermal layers after 12 successive rounds of tape stripping, newborn homozygotes display only minimal SC removal with a significant reduction in SC protein loss after tape stripping, indicating increased mechanical resistance

abnormal epidermis stratum granulosum morphology ( J:86715 , J:153070 )

• newborn homozygotes display rare and poorly formed lamellar bodies with wavy, short, and disorganized lipid structures in the granular layer of the epidermis (J:86715)

• tight junctions are poorly defined (J:153070)

acanthosis ( J:86715 )

• at 3 wks after transplantation onto nude mice, neonatal mutant skin displays profound acanthosis

thick epidermis ( J:86715 )

• at 3 wks after transplantation onto nude mice, neonatal mutant skin displays grotesque epidermal thickening

scaly skin ( J:86715 )

• at 3 wks after transplantation onto nude mice, neonatal mutant skin displays large plate-like epidermal scales

cellular

abnormal keratinocyte differentiation ( J:86715 )

• newborn homozygotes exhibit defective proteolytic processing of profilaggrin and incorporation of aberrantly processed profilaggrin into the SC during terminal corneocyte differentiation

Allelic Composition	St14^tm2Bug/St14^tm3Bug Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background	involves: 129P2/OlaHsd * 129S6/SvEvTac * Black Swiss * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
St14^tm2Bug mutation (0 available); any St14 mutation (45 available)
St14^tm3Bug mutation (0 available); any St14 mutation (45 available)
Tg(CAG-cre/Esr1*)5Amc mutation (10 available)

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

mortality/aging

premature death ( J:153070 )

• mice are moribund within 9 to 10 days of tamoxifen treatment unlike similarly treated control mice

digestive/alimentary system

abnormal enterocyte morphology ( J:153070 )

• tamoxifen-treated mice exhibit disruption of tight junctions unlike similarly treated wild-type mice

abnormal large intestine morphology ( J:153070 )

• tamoxifen-treated mice exhibit dissolution of tissue architecture and pronounced edema of crypts and submucosa in the large intestine unlike in similarly treated control mice

abnormal large intestine crypts of Lieberkuhn morphology ( J:153070 )

• tamoxifen-treated mice exhibit edema of the large intestine crypts unlike in similarly treated control mice

intestinal edema ( J:153070 )

• tamoxifen-treated mice exhibit edema of the large intestine crypts and submucosa unlike in similarly treated control mice

absent digestive secretion ( J:153070 )

• in tamoxifen-treated mice

abnormal enterocyte physiology ( J:153070 )

• tamoxifen-treated mice exhibit a loss of intestinal barrier and increased intestinal permeability unlike similarly treated control mice

• tamoxifen-treated mice exhibit a 1.5-fold increase in epithelial cell transit through colonic crypts compared with similarly treated control mice

• tamoxifen-treated mice exhibit an increase in intestinal cell turnover compared with similarly treated control mice

craniofacial

abnormal facial morphology ( J:153070 )

• tamoxifen-treated mice exhibit scaling and inflammation of the orofacial surfaces unlike similarly treated control mice

endocrine/exocrine glands

abnormal large intestine crypts of Lieberkuhn morphology ( J:153070 )

• tamoxifen-treated mice exhibit edema of the large intestine crypts unlike in similarly treated control mice

growth/size/body

abnormal facial morphology ( J:153070 )

• tamoxifen-treated mice exhibit scaling and inflammation of the orofacial surfaces unlike similarly treated control mice

weight loss ( J:153070 )

• in tamoxifen-treated mice despite normal food ingestion

cachexia ( J:153070 )

• in tamoxifen-treated mice

homeostasis/metabolism

intestinal edema ( J:153070 )

• tamoxifen-treated mice exhibit edema of the large intestine crypts and submucosa unlike in similarly treated control mice

integument

alopecia ( J:153070 )

• in tamoxifen-treated mice

abnormal hair follicle morphology ( J:153070 )

• tamoxifen-treated mice exhibit follicular hyperplasia compared with similarly treated control mice

hyperkeratosis ( J:153070 )

• in tamoxifen-treated mice

scaly skin ( J:153070 )

• tamoxifen-treated mice exhibit retention and hyperproliferative ichthyosis unlike similarly treated control mice

skin fibrosis ( J:153070 )

• tamoxifen-treated mice exhibit dermal fibrosis unlike similarly treated control mice

Allelic Composition	St14^tm2Bug/St14^tm3Bug Tg(Vil1-cre)997Gum/0
Genetic Background	involves: 129P2/OlaHsd * 129S6/SvEvTac * Black Swiss * C57BL/6 * SJL

Find Mice

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

mortality/aging

premature death ( J:153070 )

• short lifespan of a few weeks to up to a 2 months

digestive/alimentary system

digestive/alimentary phenotype ( J:153070 )

N	• mice exhibit normal small intestine morphology

abnormal enterocyte proliferation ( J:153070 )

• mice exhibit hyperproliferation of colonic epithelial cells compared with wild-type mice

chronic diarrhea ( J:153070 )

• persistent prior to weaning

abnormal colon morphology ( J:153070 )

• mice exhibit disruption of the colonic tissue architecture, edema, and pervasive inflammation unlike wild-type mice

megacolon ( J:153070 )

• without obstruction

intestinal edema ( J:153070 )

• in the colon

absent digestive secretion ( J:153070 )

colitis ( J:153070 )

homeostasis/metabolism

intestinal edema ( J:153070 )

• in the colon

growth/size/body

decreased body size ( J:153070 )

immune system

colitis ( J:153070 )

cellular

abnormal enterocyte proliferation ( J:153070 )

• mice exhibit hyperproliferation of colonic epithelial cells compared with wild-type mice

Allelic Composition	St14^tm2Bug/St14^tm3Bug Tg(MMTV-cre)4Mam/0
Genetic Background	involves: 129P2/OlaHsd * 129S6/SvEvTac * Black Swiss * FVB

Find Mice

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

digestive/alimentary system

digestive/alimentary phenotype ( J:153070 )

N	• mice exhibit normal salivary gland morphology

decreased salivation ( J:153070 )

• decreased pilocarpine-induced salivation compared with similarly treated wild-type mice

endocrine/exocrine glands

decreased salivation ( J:153070 )

• decreased pilocarpine-induced salivation compared with similarly treated wild-type mice

homeostasis/metabolism

decreased salivation ( J:153070 )

• decreased pilocarpine-induced salivation compared with similarly treated wild-type mice

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

digestive/alimentary system

submandibular gland inflammation ( J:213072 )

• increase in lymphocytic infiltration area in the submandibular gland

decreased salivation ( J:213072 )

• the salivary flow rate of 24-54 week old mutants is reduced following injection of pilocarpine

endocrine/exocrine glands

submandibular gland inflammation ( J:213072 )

• increase in lymphocytic infiltration area in the submandibular gland

decreased salivation ( J:213072 )

• the salivary flow rate of 24-54 week old mutants is reduced following injection of pilocarpine

lacrimal gland inflammation ( J:213072 )

• increase in lymphocytic infiltration area in the lacrimal gland

hematopoietic system

increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number ( J:213072 )

• the percentage of CD25+Foxp3+ cells within the CD4+ T cell population is increased in the salivary gland draining lymph nodes

increased effector memory CD4-positive, alpha-beta T cell number ( J:213072 )

• loss of CD62L (L-selectin) expression on CD4+ and CD8+ T cells from salivary gland draining lymph node and splenocytes, indicating that the majority of T cells transit to effector T cells

decreased CD4-positive, alpha-beta T cell number ( J:213072 )

• decrease in the number and percentage of CD4+ cells among salivary gland draining lymph node cells and splenocytes

increased effector memory CD8-positive, alpha-beta T cell number ( J:213072 )

• loss of CD62L (L-selectin) expression on CD4+ and CD8+ T cells from salivary gland draining lymph node and splenocytes, indicating that the majority of T cells transit to effector T cells

decreased CD8-positive, alpha-beta T cell number ( J:213072 )

• decrease in the number and percentage of CD8+ cells among salivary gland draining lymph node cells and splenocytes

decreased regulatory T cell number ( J:213072 )

• total number of Treg cells in the salivary gland draining lymph node is decreased

decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number ( J:213072 )

• decrease in the CD4+CD25+Foxp3+ Treg cell population in spleens

homeostasis/metabolism

decreased salivation ( J:213072 )

• the salivary flow rate of 24-54 week old mutants is reduced following injection of pilocarpine

immune system

submandibular gland inflammation ( J:213072 )

• increase in lymphocytic infiltration area in the submandibular gland

lacrimal gland inflammation ( J:213072 )

• increase in lymphocytic infiltration area in the lacrimal gland

increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number ( J:213072 )

• the percentage of CD25+Foxp3+ cells within the CD4+ T cell population is increased in the salivary gland draining lymph nodes

increased effector memory CD4-positive, alpha-beta T cell number ( J:213072 )

• loss of CD62L (L-selectin) expression on CD4+ and CD8+ T cells from salivary gland draining lymph node and splenocytes, indicating that the majority of T cells transit to effector T cells

decreased CD4-positive, alpha-beta T cell number ( J:213072 )

• decrease in the number and percentage of CD4+ cells among salivary gland draining lymph node cells and splenocytes

increased effector memory CD8-positive, alpha-beta T cell number ( J:213072 )

• loss of CD62L (L-selectin) expression on CD4+ and CD8+ T cells from salivary gland draining lymph node and splenocytes, indicating that the majority of T cells transit to effector T cells

decreased CD8-positive, alpha-beta T cell number ( J:213072 )

• decrease in the number and percentage of CD8+ cells among salivary gland draining lymph node cells and splenocytes

decreased regulatory T cell number ( J:213072 )

• total number of Treg cells in the salivary gland draining lymph node is decreased

decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number ( J:213072 )

• decrease in the CD4+CD25+Foxp3+ Treg cell population in spleens

abnormal cytokine secretion ( J:213072 )

• cytokine production is increased in local and systemic immune system

• mice exhibit an increase in IL-1beta, IL-4, IL-5, IL-, IL-10, IL-12-40, IL-13, IL-17, and IFN-gamma cytokines released from cells isolated from salivary gland salivary gland draining lymph node

• cultured splenocytes exhibit an increase in proinflammatory T/B cytokines and a decrease in the Th2 polarizing cytokine IL-4

• increase in proinflammatory cytokines is seen in the serum

abnormal chemokine secretion ( J:213072 )

• cultured splenocytes exhibit an increase in production of MCP-1, MCP-5, MIP-1beta, RANTES and MMP-9 chemokines

• increase in proinflammatory chemokines is seen in the serum

increased autoantibody level ( J:213072 )

• increase in serum levels of anti-SSA/Ro (multiple antigenic peptide (MAP)-Ro273), anti-SSB/La and anti-nuclear antibodies

increased anti-nuclear antigen antibody level ( J:213072 )

vision/eye

lacrimal gland inflammation ( J:213072 )

• increase in lymphocytic infiltration area in the lacrimal gland

decreased tear production ( J:213072 )

• tear flow rate of 24-54 week old mutants is reduced following injection of pilocarpine

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sjogren's syndrome		DOID:12894	OMIM:270150	J:213072

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