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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Thbs1tm1Hyn
targeted mutation 1, Richard Hynes
MGI:2154534
Summary 7 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Thbs1tm1Hyn/Thbs1tm1Hyn either: (involves: 129S2/SvPas * 129/Sv) or (involves: 129S2/SvPas * C57BL/6) MGI:3032866
hm2
Thbs1tm1Hyn/Thbs1tm1Hyn involves: 129S2/SvPas MGI:4939902
hm3
Thbs1tm1Hyn/Thbs1tm1Hyn involves: 129S2/SvPas * C57BL/6 MGI:4361456
cx4
Thbs1tm1Hyn/Thbs1tm1Hyn
Trp53tm1Tyj/Trp53tm1Tyj
involves: 129S2/SvPas * C57BL/6 MGI:3032769
cx5
Thbs1tm1Hyn/Thbs1tm1Hyn
Trp53tm1Tyj/Trp53+
involves: 129S2/SvPas * C57BL/6 MGI:3032768
cx6
Thbs1tm1Hyn/Thbs1tm1Hyn
Thbs2tm1Bst/Thbs2tm1Bst
involves: 129T2/SvEms * 129X1/SvJ MGI:3032867
cx7
ApcMin/Apc+
Thbs1tm1Hyn/Thbs1tm1Hyn
involves: C57BL/6J MGI:3032868


Genotype
MGI:3032866
hm1
Allelic
Composition
Thbs1tm1Hyn/Thbs1tm1Hyn
Genetic
Background
either: (involves: 129S2/SvPas * 129/Sv) or (involves: 129S2/SvPas * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Thbs1tm1Hyn mutation (1 available); any Thbs1 mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Lordotic curvature of the spine in Thbs1tm1Hyn/Thbs1tm1Hyn mice

mortality/aging
• fewer than expected number of homozygous mutant mice born after heterozygous matings
• incomplete penetrance

cardiovascular system
• bronchiolar arteries thickened, tortuous, with smooth muscle cell hyperplasia
• enlarged myocytes within ventricular septum
• hemorrhage into the alveoli

digestive/alimentary system

endocrine/exocrine glands
• dilation of ducts adjacent to distended gall bladder
• distended gall bladder
• increased vascularity

hematopoietic system
• increased differential percentage
• increased differential percentage

immune system
• increased differential percentage
• increased differential percentage
• pneumonia arose between 1 and 4 months of life (J:46182)

liver/biliary system
• dilation of ducts adjacent to distended gall bladder
• distended gall bladder

muscle

renal/urinary system
• indistinct cortico-medullary junction

reproductive system
• homozygous matings produced significantly fewer cumulative litters per breeding pair than wild-type matings

respiratory system
• hemorrhage into the alveoli
• pneumonia arose between 1 and 4 months of life (J:46182)
• proximal mucinous metaplasia
• bronchiolar arteries thickened, tortuous, with smooth muscle cell hyperplasia

skeleton
• apparent from birth

integument
• lack of dermal matrix
• increased dermal vascular density




Genotype
MGI:4939902
hm2
Allelic
Composition
Thbs1tm1Hyn/Thbs1tm1Hyn
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Thbs1tm1Hyn mutation (1 available); any Thbs1 mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
N
• normal cutaneous architecture is maintained in myocutaneous skin flap preparations
• improved myocutaneous skin flap survival 7 days after the surgery as compared to controls
• reduced necrosis

limbs/digits/tail
• better tissue survival after proximal ligation of the external iliac and common femoral
• minimal or no clinical evidence of tissue necrosis
• increased vascular remodeling and vascular perfusion by 1 week after the operation

cardiovascular system
• increased vascular remodeling and vascular perfusion by 1 week after proximal ligation of the external iliac and common femoral

cellular
• at 24-hr of kidney ischemia/reperfusion (IR) injury, mice exhibit a significant reduction in the number of TUNEL-positive tubules in kidney cortices compared with similarly treated wild-type mice

homeostasis/metabolism
• at 24-hr of kidney ischemia/reperfusion (IR) injury, mice exhibit significantly lower serum creatinine levels and show significantly less tubular dilatation, cast formation, loss of brush border, focal epithelial vacuolization and necrosis in the cortex than similarly treated wild-type mice

renal/urinary system
• at 24-hr of kidney ischemia/reperfusion (IR) injury, mice exhibit a significant reduction in the number of TUNEL-positive tubules in kidney cortices compared with similarly treated wild-type mice
• at 24-hr of kidney ischemia/reperfusion (IR) injury, mice exhibit significantly lower serum creatinine levels and show significantly less tubular dilatation, cast formation, loss of brush border, focal epithelial vacuolization and necrosis in the cortex than similarly treated wild-type mice




Genotype
MGI:4361456
hm3
Allelic
Composition
Thbs1tm1Hyn/Thbs1tm1Hyn
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Thbs1tm1Hyn mutation (1 available); any Thbs1 mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• stimulated lacrimal function is abolished compared to in similarly treated wild-type lacrimal gland fragments
• tear peroxidase declines in older mice
• lacrimal function is lost as early as 8 weeks
• lacrimal gland tissue produces more IL17 than in wild-type mice
• apoptosis in the lacrimal gland of young mice is increased compared to in wild-type mice
• mice exhibit deterioration in the lacrimal gland unlike wild-type mice
• apoptosis in the lacrimal gland of young mice is increased compared to in wild-type mice
• at 24 and 48 weeks, mononuclear infiltrates are increased compared to in wild-type mice
• mice exhibit an increase in CD4+ T cells compared with wild-type mice
• younger mice exhibit an increase in numbers goblet cells in the conjunctiva while in older mice they are decreased compared to in wild-type mice
• age-related decline in conjunctiva goblet cell density is worse than in wild-type mice
• older mice exhibit corneal edema unlike wild-type mice
• mice exhibit damage in the corneal epithelial barrier unlike wild-type mice
• mice exhibit a progressive reduction in eye size characterized by eye closure and eventual loss of the eye
• mice develop dry crusty eyes that eventually close

immune system
• at 24 and 48 weeks, mononuclear infiltrates are increased compared to in wild-type mice
• mice exhibit an increase in CD4+ T cells compared with wild-type mice
• the number of Foxp3+ regulatory T cells in the spleen is decreased compared to in wild-type mice
• in splenocytes of older mice
• at 8 to 12 weeks, mice exhibit a 2-fold increase in IL17+ splenocytes compared with wild-type mice
• lacrimal gland tissue produces more IL17 than in wild-type mice
• in older mice, IL17 secretion from splenocytes is increased compared to in wild-type mice
• at 8 weeks, mice exhibit an increase in serum anti-SSA and anti-SSB autoantibodies compared with wild-type mice

hematopoietic system
• the number of Foxp3+ regulatory T cells in the spleen is decreased compared to in wild-type mice

endocrine/exocrine glands
• stimulated lacrimal function is abolished compared to in similarly treated wild-type lacrimal gland fragments
• tear peroxidase declines in older mice
• lacrimal function is lost as early as 8 weeks
• lacrimal gland tissue produces more IL17 than in wild-type mice
• apoptosis in the lacrimal gland of young mice is increased compared to in wild-type mice
• mice exhibit deterioration in the lacrimal gland unlike wild-type mice
• apoptosis in the lacrimal gland of young mice is increased compared to in wild-type mice
• at 24 and 48 weeks, mononuclear infiltrates are increased compared to in wild-type mice
• mice exhibit an increase in CD4+ T cells compared with wild-type mice

cardiovascular system
• DEA/NO treatment causes a greater hypotensive effect than in controls
• significantly decreased relative to controls
• dark cycle mean arterial pressure is significantly increased relative to controls
• dark cycle diastolic pressure is increased relative to controls

integument
• hair is preserved after 25 Gy irradiation
• minimal or no skin ulceration 8 weeks after irradiation
• hair follicles and skin architecture are better preserved than in controls

muscle
N
• no leg muscle atrophy after irradiation
• limb flexibility maintained
• less loss of muscle fibers and nuclei after irradiation

cellular
N
• mitochondrial viability and function is preserved after irradiation
• apoptosis in the lacrimal gland of young mice is increased compared to in wild-type mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Sjogren's syndrome DOID:12894 OMIM:270150
J:153126




Genotype
MGI:3032769
cx4
Allelic
Composition
Thbs1tm1Hyn/Thbs1tm1Hyn
Trp53tm1Tyj/Trp53tm1Tyj
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Thbs1tm1Hyn mutation (1 available); any Thbs1 mutation (40 available)
Trp53tm1Tyj mutation (12 available); any Trp53 mutation (155 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• 2.8% incidence of pancreas adenocarcinoma

digestive/alimentary system

mortality/aging
• average life span of 149 days

neoplasm
• 2.8% incidence of pancreas adenocarcinoma
• 53% incidence
• 8.3% incidence
• 5.6% incidence of adenocarcinoma
• 2.8% incidence of pancreas adenocarcinoma
• 39% incidence of sarcomas, however no osteosarcomas are seen as in single Trp53 mutants
• 5.6% incidence of undifferentiated sarcoma




Genotype
MGI:3032768
cx5
Allelic
Composition
Thbs1tm1Hyn/Thbs1tm1Hyn
Trp53tm1Tyj/Trp53+
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Thbs1tm1Hyn mutation (1 available); any Thbs1 mutation (40 available)
Trp53tm1Tyj mutation (12 available); any Trp53 mutation (155 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• 1.6% incidence of pancreatic adenocarcinomas
• 1.6% incidence of islet cell adenocarcinomas

liver/biliary system
• 1.6% incidence of hepatocarcinoma

integument

skeleton

respiratory system

mortality/aging
• average life span of 426 days

neoplasm
• 1.6% incidence of pancreatic adenocarcinomas
• 1.6% incidence of islet cell adenocarcinomas
• 58% of 19 tumors exhibit loss of heterozygosity for Trp53
• 4.7% incidence
• 44% incidence
• 19% incidence of adenocarcinomas
• 1.6% incidence of pancreatic adenocarcinomas
• 1.6% incidence of islet cell adenocarcinomas
• 1.6% incidence of hepatocarcinoma
• 14% incidence of ear squamous cell carcinoma
• 44% incidence of sarcomas
• 1.6% incidence of undifferentiated sarcomas
• 1.6% incidence of stomach papilloma

digestive/alimentary system
• 13% incidence of stomach polyps




Genotype
MGI:3032867
cx6
Allelic
Composition
Thbs1tm1Hyn/Thbs1tm1Hyn
Thbs2tm1Bst/Thbs2tm1Bst
Genetic
Background
involves: 129T2/SvEms * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Thbs1tm1Hyn mutation (1 available); any Thbs1 mutation (40 available)
Thbs2tm1Bst mutation (1 available); any Thbs2 mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 1/2 the expected number of double homozygous mutant mice are born

immune system
• acute and chronic

limbs/digits/tail

respiratory system
• acute and chronic

skeleton
• mild

homeostasis/metabolism
• prolonged bleeding time
• prolonger persistence of inflammation and delayed scab loss at site of wound

integument

cellular

hematopoietic system




Genotype
MGI:3032868
cx7
Allelic
Composition
ApcMin/Apc+
Thbs1tm1Hyn/Thbs1tm1Hyn
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
ApcMin mutation (11 available); any Apc mutation (58 available)
Thbs1tm1Hyn mutation (1 available); any Thbs1 mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

neoplasm
• intestinal carcinoma in situ

digestive/alimentary system
• intestinal dysplasia

growth/size/body

hematopoietic system

skeleton





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/31/2020
MGI 6.15
The Jackson Laboratory