All Phenotypes St14<tm1Bug> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	St14^tm1Bug/St14^tm1Bug	involves: 129P2/OlaHsd	MGI:2683729
hm2	St14^tm1Bug/St14^tm1Bug	involves: 129P2/OlaHsd * Black Swiss	MGI:2683708
cx3	Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg} St14^tm1Bug/St14^tm1Bug	involves: 129P2/OlaHsd	MGI:5440263
cx4	Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg} St14^tm1Bug/St14⁺	involves: 129P2/OlaHsd	MGI:5440264
cx5	F2rl1^tm1Cgh/F2rl1^tm1Cgh Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg} St14^tm1Bug/St14⁺	involves: 129P2/OlaHsd * 129S4/SvJae	MGI:5440267
cx6	F2r^tm1Ajc/F2r^tm1Ajc St14^tm1Bug/St14^tm1Bug	involves: 129P2/OlaHsd * 129S4/SvJae	MGI:5440276
cx7	Spint1^tm1Bug/Spint1^tm1Bug St14^tm1Bug/St14^tm1Bug	involves: 129P2/OlaHsd * 129S6/SvEvTac	MGI:5440269
cx8	Spint1^tm1Bug/Spint1^tm1Bug St14^tm1Bug/St14⁺	involves: 129P2/OlaHsd * 129S6/SvEvTac	MGI:5440270
cx9	Spint1^tm1Bug/Spint1^tm1Bug St14^tm1Bug/St14^tm1Bug	involves: 129P2/OlaHsd * 129S6/SvEvTac * NIH Black Swiss	MGI:3822304
cx10	Prss8^fr/Prss8^fr Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg} St14^tm1Bug/St14⁺	involves: 129P2/OlaHsd * DBA	MGI:5440275

Allelic Composition	St14^tm1Bug/St14^tm1Bug
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
St14^tm1Bug mutation (0 available); any St14 mutation (44 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 )

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

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

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

mortality/aging

neonatal lethality, complete penetrance ( J:142708 )

• homozygotes are born at near normal numbers but die within the first day after birth

postnatal lethality, complete penetrance ( J:87125 )

• homozygotes develop to term but die within 48 hrs of birth

• however, no obvious abnormalities are detected in the lungs, urogenital tract, skeleton, CNS, vasculature, pituitary, pancreas, liver, adrenals, or stomach

growth/size/body

abnormal snout morphology ( J:87125 )

• newborn homozygotes display an abnormal snout morphology with numerous ellipsoid epidermal protrusions instead of erupted vibrissae

decreased body weight ( J:87125 )

• at 3-12 hrs after birth, the body weight of homozygotes is ~20% lower than that of control littermates

decreased body length ( J:87125 )

• at 3-12 hrs after birth, the crown-rump length of homozygotes is 12% shorter than that of control littermates

homeostasis/metabolism

dehydration ( J:87125 )

• newborn homozygotes develop rapid and fatal dehydration immediately after birth

impaired skin barrier function ( J:87125 )

• newborn homozygotes show extensive dye penetration across the entire epidermal surface, indicating a generalized loss of 'outwards in' epidermal barrier function that leads to dehydration

• in addition, homozygotes show an uncontrolled (5-fold faster) epithelial loss of fluids through evaporation at 37 C, indicating a severe loss of 'inwards out' epithelial barrier function

immune system

increased thymocyte apoptosis ( J:87125 )

• newborn homozygotes exhibit widespread thymocyte apoptosis throughout the cortex and the medulla of the thymus, as revealed by TUNEL analysis

• flow cytometry analysis revealed a 5-fold increase in the apoptotic index and a ~50% reduction in the total number of immature CD4⁺CD8⁺ double positive T lymphocytes in the thymus

decreased double-positive T cell number ( J:87125 )

• newborn homozygotes display a ~50% reduction in the total number of immature CD4⁺CD8⁺ double positive T lymphocytes in the thymus due to accelerated thymocyte apoptosis

behavior/neurological

absent gastric milk in neonates ( J:87125 , J:142708 )

• only 43% of newborn homozygotes followed up to 24 hrs after birth contain gastric milk spots, suggesting an inability to nurse properly (J:87125)

• 75% of homozygous mutant pups lack milk spots in the stomach (J:142708)

craniofacial

abnormal snout morphology ( J:87125 )

• newborn homozygotes display an abnormal snout morphology with numerous ellipsoid epidermal protrusions instead of erupted vibrissae

hematopoietic system

increased thymocyte apoptosis ( J:87125 )

• newborn homozygotes exhibit widespread thymocyte apoptosis throughout the cortex and the medulla of the thymus, as revealed by TUNEL analysis

• flow cytometry analysis revealed a 5-fold increase in the apoptotic index and a ~50% reduction in the total number of immature CD4⁺CD8⁺ double positive T lymphocytes in the thymus

decreased double-positive T cell number ( J:87125 )

• newborn homozygotes display a ~50% reduction in the total number of immature CD4⁺CD8⁺ double positive T lymphocytes in the thymus due to accelerated thymocyte apoptosis

integument

impaired skin barrier function ( J:87125 )

• newborn homozygotes show extensive dye penetration across the entire epidermal surface, indicating a generalized loss of 'outwards in' epidermal barrier function that leads to dehydration

• in addition, homozygotes show an uncontrolled (5-fold faster) epithelial loss of fluids through evaporation at 37 C, indicating a severe loss of 'inwards out' epithelial barrier function

abnormal hair shaft morphology ( J:87125 )

• mutant vibrissal hair shafts appear hypomorphic and are uniformly curved and ingrown

underdeveloped hair follicles ( J:87125 )

• mutant pelage follicles are markedly hypoplastic, penetrate less deeply into the underlying dermis and overlying epidermis, and appear poorly differentiated

abnormal piliary canal morphology ( J:87125 )

• newborn homozygotes display hair canal agenesis

decreased hair follicle number ( J:87125 )

• newborn homozygotes contain fewer pelage hair follicles than wild-type controls

abnormal vibrissa follicle morphology ( J:87125 )

• newborn homozygotes show numerous aborted vibrissal follicle remnants in the nasal area, observed as large follicles in various stages of degeneration embedded in reactive hyperplastic epidermis

• mutant vibrissal follicles are abundant but severely hypomorphic; however, vascular sinuses, inner and outer root sheaths, follicular papillae, hair bulbs, and hair shafts are observed

absent vibrissae ( J:87125 )

• all newborn homozygotes show absence of both erupted vibrissal hair shafts and vibrissal hair canals

abnormal epidermis stratum corneum morphology ( J:87125 )

• all newborn homozygotes display striking malformations of the stratum corneum, including a less organized stratification

• only a few intercorneocyte lacunae are observed, resulting in an abnormally compact stratum corneum after H&E staining

• after glutaraldehyde fixation and toluidine blue staining, mutant corneocytes appear dysmorphic, pleiomorphic, and disorganized with a swollen, rather than flattened, appearance

• intracytoplasmic vesicular bodies are completely absent in transitional cells of the epidermis and in the extracellular space; absence of vesicular bodies is also noted in transitional cells within mutant hair follicles, suggesting a generalized defect in transitional cell function

• in contrast, the basal, spinous, and granular layers of the epidermis remain largely unaffected

abnormal corneocyte morphology ( J:87125 , J:142708 )

• after glutaraldehyde fixation and toluidine blue staining, mutant corneocytes appear dysmorphic, pleiomorphic, and disorganized with a swollen, rather than flattened, appearance (J:87125)

• the stratum corneum is composed of tightly packed immature corneocytes (J:142708)

abnormal skin appearance ( J:87125 )

• newborn homozygotes exhibit an abnormally dry, wrinkled, red, and shiny skin on all body surfaces, including the trunk, limbs, tail, and face

dry skin ( J:87125 )

reddish skin ( J:87125 )

shiny skin ( J:87125 )

wrinkled skin ( J:87125 )

cellular

increased thymocyte apoptosis ( J:87125 )

• newborn homozygotes exhibit widespread thymocyte apoptosis throughout the cortex and the medulla of the thymus, as revealed by TUNEL analysis

• flow cytometry analysis revealed a 5-fold increase in the apoptotic index and a ~50% reduction in the total number of immature CD4⁺CD8⁺ double positive T lymphocytes in the thymus

endocrine/exocrine glands

increased thymocyte apoptosis ( J:87125 )

• newborn homozygotes exhibit widespread thymocyte apoptosis throughout the cortex and the medulla of the thymus, as revealed by TUNEL analysis

• flow cytometry analysis revealed a 5-fold increase in the apoptotic index and a ~50% reduction in the total number of immature CD4⁺CD8⁺ double positive T lymphocytes in the thymus

Allelic Composition	Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg} St14^tm1Bug/St14^tm1Bug
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spint2^{Gt(KST272)Byg} mutation (0 available); any Spint2 mutation (15 available)
St14^tm1Bug mutation (0 available); any St14 mutation (44 available)

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

mortality/aging

mortality/aging ( J:188121 )

N	• embryos are viable unlike embryos homozygous for Spint2^{Gt(KST272)Byg} alone

embryo

embryo phenotype ( J:188121 )

N	• inactivation of St14 rescues defects in placental development seen in mice homozygous for Spint2^{Gt(KST272)Byg} alone

abnormal neural tube morphology ( J:188121 )

spina bifida ( J:188121 )

• in 18% of mice

• partial rescue compared to mice homozygous for Spint2^{Gt(KST272)Byg} and heterozygous for St14^tm1Bug

limbs/digits/tail

curly tail ( J:188121 )

• in 62% of mice

nervous system

abnormal neural tube morphology ( J:188121 )

spina bifida ( J:188121 )

• in 18% of mice

• partial rescue compared to mice homozygous for Spint2^{Gt(KST272)Byg} and heterozygous for St14^tm1Bug

exencephaly ( J:188121 )

• in 13% of mice

Allelic Composition	Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg} St14^tm1Bug/St14⁺
Genetic Background	involves: 129P2/OlaHsd

Find Mice

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:188121 )

• lethality at E10.5-E14.5

embryonic lethality during organogenesis, incomplete penetrance ( J:188121 )

• survive longer than embryos homozygous for Spint2^{Gt(KST272)Byg} alone

• lethality at E10.5-E14.5

embryonic lethality between implantation and placentation, incomplete penetrance ( J:188121 )

• 45% of embryos die at E9.5 or earlier

embryo

spina bifida ( J:188121 )

• in 95-100% of mice

abnormal placenta morphology ( J:188121 )

• placental defects

abnormal placenta labyrinth morphology ( J:188121 )

• incomplete differentiation

limbs/digits/tail

curly tail ( J:188121 )

• in 89% of mice

nervous system

spina bifida ( J:188121 )

• in 95-100% of mice

exencephaly ( J:188121 )

• in 11% of mice

Allelic Composition	F2rl1^tm1Cgh/F2rl1^tm1Cgh Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg} St14^tm1Bug/St14⁺
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
F2rl1^tm1Cgh mutation (3 available); any F2rl1 mutation (58 available)
Spint2^{Gt(KST272)Byg} mutation (0 available); any Spint2 mutation (15 available)
St14^tm1Bug mutation (0 available); any St14 mutation (44 available)

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

nervous system

exencephaly ( J:188121 )

• in all mice

• penetrance is identical to mutant mice wild-type for at least one F2rl1 allele

Allelic Composition	F2r^tm1Ajc/F2r^tm1Ajc St14^tm1Bug/St14^tm1Bug
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
F2r^tm1Ajc mutation (2 available); any F2r mutation (23 available)
St14^tm1Bug mutation (0 available); any St14 mutation (44 available)

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

mortality/aging

mortality/aging ( J:188121 )

N	• expected numbers are found at midgestation

embryo

embryo phenotype ( J:188121 )

N	• no neural tube defects are seen

Allelic Composition	Spint1^tm1Bug/Spint1^tm1Bug St14^tm1Bug/St14^tm1Bug
Genetic Background	involves: 129P2/OlaHsd * 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spint1^tm1Bug mutation (0 available); any Spint1 mutation (26 available)
St14^tm1Bug mutation (0 available); any St14 mutation (44 available)

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

mortality/aging

mortality/aging ( J:188121 )

N	• survive past E10.5, unlike mice homozygous for Spint1^tm1Bug alone

embryo

embryo phenotype ( J:188121 )

N	• rescue of placental defects seen in mice homozygous for Spint1^tm1Bug alone

Allelic Composition	Spint1^tm1Bug/Spint1^tm1Bug St14^tm1Bug/St14⁺
Genetic Background	involves: 129P2/OlaHsd * 129S6/SvEvTac

Find Mice

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:188121 )

• at E10.5

embryo

absent placental labyrinth ( J:188121 )

Allelic Composition	Spint1^tm1Bug/Spint1^tm1Bug St14^tm1Bug/St14^tm1Bug
Genetic Background	involves: 129P2/OlaHsd * 129S6/SvEvTac * NIH Black Swiss

Find Mice

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

mortality/aging

neonatal lethality, complete penetrance ( J:142708 )

• double homozygotes born at near normal numbers

• die within the first day after birth

embryo

embryo phenotype ( J:142708 )

N	• placentas normal, including labyrinth layer • no growth retardation

behavior/neurological

absent gastric milk in neonates ( J:142708 )

• 75% of double homozygous mutant pups lack milk spots in the stomach

integument

absent vibrissae ( J:142708 )

• absence of erupted whiskers

abnormal epidermal layer morphology ( J:142708 )

• reddish, wrinkled, dry

abnormal epidermis stratum corneum morphology ( J:142708 )

abnormal corneocyte morphology ( J:142708 )

• tightly packed immature corneocytes

thin epidermis ( J:142708 )

dry skin ( J:142708 )

reddish skin ( J:142708 )

wrinkled skin ( J:142708 )

Allelic Composition	Prss8^fr/Prss8^fr Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg} St14^tm1Bug/St14⁺
Genetic Background	involves: 129P2/OlaHsd * DBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prss8^fr mutation (13 available); any Prss8 mutation (24 available)
Spint2^{Gt(KST272)Byg} mutation (0 available); any Spint2 mutation (15 available)
St14^tm1Bug mutation (0 available); any St14 mutation (44 available)

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

mortality/aging

mortality/aging ( J:188121 )

N	• expected numbers are found at term unlike mutant mice wild-type for St14

embryo

embryo phenotype ( J:188121 )

N	• complete rescue of neural tube closure and placental differentiation defects seen in mice homozygous for Spint2^{Gt(KST272)Byg} and heterozygous Prss8^fr

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