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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Runx3tm1Yg
targeted mutation 1, Yoram Groner
MGI:2183399
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Runx3tm1Yg/Runx3tm1Yg either: (involves: 129S1/Sv * 129X1/SvJ * BALB/c) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) MGI:3652790
hm2
Runx3tm1Yg/Runx3tm1Yg either: (involves: 129S1/Sv * 129X1/SvJ * ICR) or (involves: 129S1/Sv * 129X1/SvJ * MF1) MGI:3057279
hm3
Runx3tm1Yg/Runx3tm1Yg involves: 129S1/Sv * 129X1/SvJ MGI:3652789
hm4
Runx3tm1Yg/Runx3tm1Yg involves: 129S1/Sv * 129X1/SvJ * ICR MGI:5689499
cx5
Runx2tm1Mjo/Runx2+
Runx3tm1Yg/Runx3tm1Yg
involves: 129S1/Sv * 129X1/SvJ * ICR MGI:5689554


Genotype
MGI:3652790
hm1
Allelic
Composition
Runx3tm1Yg/Runx3tm1Yg
Genetic
Background
either: (involves: 129S1/Sv * 129X1/SvJ * BALB/c) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx3tm1Yg mutation (0 available); any Runx3 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: increased compared to mice on an outbred MF-1 or ICR background




Genotype
MGI:3057279
hm2
Allelic
Composition
Runx3tm1Yg/Runx3tm1Yg
Genetic
Background
either: (involves: 129S1/Sv * 129X1/SvJ * ICR) or (involves: 129S1/Sv * 129X1/SvJ * MF1)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx3tm1Yg mutation (0 available); any Runx3 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Pathological findings in large intestines of Runx3tm1Yg/Runx3tm1Yg and +/+ wild-type.

mortality/aging
• Background Sensitivity: mortality rate is increased on a 129 background compared to mice on outbred MF1 or ICR backgrounds (J:77764)
• Background Sensitivity: decreased compared to mice crossed onto a BALB/c or C57BL/6 background (J:93240)

behavior/neurological
• gastrointestinal tract contains little ingesta
• severe limb ataxia and an uncoordinated gait
• abnormal positioning of limbs when at rest

muscle
• complete absence of spindles in many appendicular muscles, including the soleus, cranial tibial, and medial gastrocnemius; however a normal number of spindles are seen in the jaw-closing muscles and other head muscles
• frequent extensor rigidity in all four limbs

nervous system
• complete absence of spindles in many appendicular muscles, including the soleus, cranial tibial, and medial gastrocnemius; however a normal number of spindles are seen in the jaw-closing muscles and other head muscles
• decreased expression of many proprioceptive neuron-specific markers while expression of markers of other neuron classes is similar to wild-type
• complete loss of Ia afferent projections from the spinal gray matter at E16.5 and P0
• overall volume is reduced by 32%, the total number of neurons is reduced by 26%, and the number of large diameter (greater then 20 um) neurons is reduced by 76%
• 44% reduction in the total number of myelinated axons in the dorsal root with a preferential loss of large diameter axons and a 62% reduction in dorsal root cross-sectional area at P30 - P35
• at P30 dorsal columns cross-sectional area is reduced by 39%
• extends bilaterally closer to the midline than in wild-type mice; however the surface area of the cortico-spinal tract is unchanged
• at P30 dorsal column cross-sectional area is reduced by 39%
• after stimulation of the L5 dorsal root afferents only a small short-latency ventral root potential and no short-latency monosynaptic reflex is seen in the L5 ventral root
• graded stimulation of L5 dorsal root afferents does not produce any significant short-latency postsynaptic potential
• monosynaptic EPSPs are absent in 78% of motorneurons and when present have a very low amplitude

immune system
• increase in splenic CD8+ CD11b- and a decrease in CD8- CD11b+ dendritic cells
• spontaneous and LPS-induced maturation of dendritic cells are significantly increased, while TGFB inhibition of maturation is absent
• absent from the skin; however the abundance of dendritic cells is similar to wild-type
• increase in the number of mature dendritic cells in bronchoalveolar lavages (J:88424)
• with or without LPS stimulation the proportion of CD11c+/CD11b+ alveolar dendritic cells is increased compared to wild-type mice (J:100348)
• 3- and 4-fold increase in IgE in the serum and bronchoalveolar lavage, respectively
• increase in the expression of IFNG in the colon of young and old mice
• increase in the expression of IL-12 and a slight increase in IL-4 and IL-10 expression in the colon of young and old mice
• increase in expression in the colon of young and old mice
• often enlarged and contain more cells
• increased ability to stimulate CD4+ T cell proliferation compared to wild-type cells (J:88424)
• up to 16% of dendritic cells in the thoracic lymph node express the high affinity receptor for IgE compared to only about 1% of cells in wild-type mice (J:100348)
• dendritic cells collected by bronchoalveolar lavage and derived from thoracic or axillary lymph nodes express higher levels of CCR7 (J:100348)
• TGFB fails to inhibit SLC/CCL21-mediated chemotaxis of bone marrow or dermal dendritic cells and CCR7-dependent migration of dendritic cells from the respiratory system into the draining lymph nodes is increased (J:100348)
• at 4 weeks of age colitis characterized by multifocal and coalescing mixed mucosal and submucosal infiltration of plasma cells, lymphocytes, histiocytes, and eosinophils is seen
• at the earliest stages, colits affects segments of the cecum and ascending and descending colon
• colitis occurs with equal severity when mice are housed in either specific pathogen free or conventional conditions
• seen in about 20% of mice
• mild multifocal mucosal and submucosal infiltrations of lymphocytes, plasma cells and eosinophils
• at 8 weeks of age, 52% display prominent eosinophil infiltration in the lungs which also include mononuclear phagocytes and occasionally include lymphocytesin the interstitium around the blood vessels and airways
• vascular cuffs formed by eosinophils are seen
• in severe cases the infiltrate may expand into the alvolar septae and fill the alveolar spaces; however, inflammation is transient and is rarely seen in 2 to 6 month old mice at 8 - 11 weeks of age, bronchoalveolar lavage revealed increased eosinophils and increased levels of IL-5
• following exposure to sub-optimal doses of OVA, increased accumulation of dendritic cells is seen in bronchoalveolar lavages

respiratory system
• inflammation may be accompanied by airway epithelial hyperplasia
• inflammation may be accompanied by mucus hypersecretion and excess collagen deposition
• at 8 weeks of age, 52% display prominent eosinophil infiltration in the lungs which also include mononuclear phagocytes and occasionally include lymphocytesin the interstitium around the blood vessels and airways
• vascular cuffs formed by eosinophils are seen
• in severe cases the infiltrate may expand into the alvolar septae and fill the alveolar spaces; however, inflammation is transient and is rarely seen in 2 to 6 month old mice at 8 - 11 weeks of age, bronchoalveolar lavage revealed increased eosinophils and increased levels of IL-5
• following exposure to sub-optimal doses of OVA, increased accumulation of dendritic cells is seen in bronchoalveolar lavages
• at 4 to 9 weeks of age, increased airway responsiveness to doses of methacholine from 40 mg/ml to 200 mg/ml is seen, with suffocation of mutants but not wild-type mice seen with exposure to 200 mg/ml
• by 5 - 6 months of age airway responsiveness is similar to wild-type

digestive/alimentary system
• crypt loss often accompanies colitis
• mucosal hyperplasia often accompanies colitis
• fibrosis of the lamina propria sometimes accompanies colitis
• cecal wall is frequently thickened, rigid and opaque
• variable tubular thickening
• mice older than 8 months develop progressive hyperplasia of the gastric glandular mucosa beginning in the pyloric region and eventually involving the entire glandular stomach wall
• hyperplatic mucosa displays disturbed epithelial differentiation, elongation of the gastric pits and glands, and prominent hyaline degeneration in which the cytoplasm of the epithelial cells expands and becomes smooth and hypereosinophilic
• in advanced cases the hyperplastic mucosa protrudes into the adjacent layers but not through the serosa; however gastric neoplasms with the exception of isolated mucosal polyps, are not detected
• lost in severe cases of gastric glandular mucosal hyperplasia
• lost in severe cases of gastric glandular mucosal hyperplasia
• the overall stomach lesion is consistent with proliferative gastritis
• at 4 weeks of age colitis characterized by multifocal and coalescing mixed mucosal and submucosal infiltration of plasma cells, lymphocytes, histiocytes, and eosinophils is seen
• at the earliest stages, colits affects segments of the cecum and ascending and descending colon
• colitis occurs with equal severity when mice are housed in either specific pathogen free or conventional conditions
• seen in about 20% of mice
• mild multifocal mucosal and submucosal infiltrations of lymphocytes, plasma cells and eosinophils

skeleton
• resulting from frequent extensor rigidity in all four limbs

growth/size/body
• reduced to about 50% of wild-type

adipose tissue
• minimal fat stores

hematopoietic system
• increase in splenic CD8+ CD11b- and a decrease in CD8- CD11b+ dendritic cells
• spontaneous and LPS-induced maturation of dendritic cells are significantly increased, while TGFB inhibition of maturation is absent
• absent from the skin; however the abundance of dendritic cells is similar to wild-type
• increase in the number of mature dendritic cells in bronchoalveolar lavages (J:88424)
• with or without LPS stimulation the proportion of CD11c+/CD11b+ alveolar dendritic cells is increased compared to wild-type mice (J:100348)
• 3- and 4-fold increase in IgE in the serum and bronchoalveolar lavage, respectively

endocrine/exocrine glands
• crypt loss often accompanies colitis
• lost in severe cases of gastric glandular mucosal hyperplasia
• lost in severe cases of gastric glandular mucosal hyperplasia

homeostasis/metabolism
• increase in the expression of IFNG in the colon of young and old mice
• increase in the expression of IL-12 and a slight increase in IL-4 and IL-10 expression in the colon of young and old mice
• increase in expression in the colon of young and old mice

integument
• shorter with less prominent bends
• appears less dense with more prominent outer guard hairs
• constitute only 55% of the total hair compared to about 70% in wild-type
• shorter with fewer (2 compared to 3 to 5 in wild-type) and less prominent bends
• the bend regions appear thicker, large regions where the air cells seem more refractive to light are present, and the hairs seem less flexible

cellular
• spontaneous and LPS-induced maturation of dendritic cells are significantly increased, while TGFB inhibition of maturation is absent

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
asthma DOID:2841 OMIM:600807
J:100348
inflammatory bowel disease DOID:0050589 OMIM:PS266600
J:93240




Genotype
MGI:3652789
hm3
Allelic
Composition
Runx3tm1Yg/Runx3tm1Yg
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx3tm1Yg mutation (0 available); any Runx3 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: mortality rate is increased on a 129 background compared to mice on outbred MF1 or ICR backgrounds

behavior/neurological
• severe limb ataxia and an uncoordinated gait
• abnormal positioning of limbs when at rest

muscle
• frequent extensor rigidity in all four limbs

skeleton
• resulting from frequent extensor rigidity in all four limbs

immune system
• marked increase in the number of mature CD8+ cells that abnormally express CD4 is seen in the thymus and spleen
• less than 10% of CD8+ splenocytes express Itgae compared to over 90% in wild-type mice

growth/size/body

hematopoietic system
• marked increase in the number of mature CD8+ cells that abnormally express CD4 is seen in the thymus and spleen
• less than 10% of CD8+ splenocytes express Itgae compared to over 90% in wild-type mice




Genotype
MGI:5689499
hm4
Allelic
Composition
Runx3tm1Yg/Runx3tm1Yg
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx3tm1Yg mutation (0 available); any Runx3 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• severe
• severely impaired gait pattern
• posterior placement of forelimbs and uncoordinated limb placement
• at 3 months of age gait regularity is substantially decreased

cellular
• more than 50% reduction in the number of BrdU+ cells in calvarial sections of newborns indicating decreased proliferation of osteoblast progenitor cells
• cultured osteoblasts show impaired proliferation and bone matrix formation

muscle
• decrease in mean fiber area in the muscles attached to the spine
• however, no left vs right side differences are seen

growth/size/body
• dwarfism

skeleton
N
• developing spines show no gross abnormalities
• more than 50% reduction in the number of BrdU+ cells in calvarial sections of newborns indicating decreased proliferation of osteoblast progenitor cells
• cultured osteoblasts show impaired proliferation and bone matrix formation
• small skeleton
• bones show 41% and 34% decreases in thickness and total section area, respectively, at 3 weeks of age
• the intramembranous skull bones are softer than in wild-type mice at E18.5
• diminution of bone tissue in skulls
• calvaria are reduced in size
• reduction in femoral width, with a 50% smaller bone cortex area than wild-type mice at 3 weeks of age
• clavicles are softer than in wild-type mice at E18.5
• short long bones in 3 week old mice
• humeri are 15% shorter at 1 day of age
• femurs are 19% shorter in 3 week old mice
• in 5 month old mice
• 19 of 20 mice show scoliosis at P90 with a curve range between 12 and 71 degrees
• most commonly this is seen as a major thoracic curve accompanied by smaller curves rostrally and caudally
• in 16 of 19 mice the apex of the major curve is right-sided and located between spinal levels T8 and T10
• curvature is seen in only a single mouse at P40 but is present by P60
• curvature worsens between P60 and P90 and more slowly after P90
• bend is to the right of the coronal plane
• cortices of 3 week old mice show a 58% reduction in bone mineral content
• 59% decrease in trabecular bone mineral content at 3 weeks of age
• cortices of 3 week old mice show osteopenia, including 14% and 58% reductions in bone mineral density and bone mineral content, respectively
• osteopenia is congenital, with delayed ossification seen at E14.5
• osteopenia is seen in the cancellous region of the femur, with a decrease in trabecular bone mineral density (28%) and trabecular bone mineral content (59%) compared to wild-type mice at 3 weeks of age
• long bones show reduced cortical thickness at 3 weeks of age
• 38% and 34% reduction in the surface osteoblast/bone surface ratio and in the number of osteoblasts/bone perimeter, respectively, indicating reduced osteoblast numbers
• however, osteoclast numbers are normal
• long bones show underdeveloped trabecular regions at 3 weeks of age
• osteopenia is also seen in the cancellous region of the femur, with decreases in trabecular thickness (22%), trabecular bone mineral density (28%), and trabecular bone mineral content (59%) compared to wild-type mice at 3 weeks of age
• lower bone mass, with a 38% decrease in bone volume/total volume
• complete lack of bone material is seen at E14.5, the earliest time point of bone appearance, compared to wild-type which show bulk calcification in the bone collar and primary spongiosa regions, however, mineral deposits are seen at E16.5, indicating delayed osteogenesis which commences by around E16.5
• 19% decrease in the mineral apposition rate and a reduction of the mineralizing surface/bone surface and the bone formation rate of 59% and 68%, respectively
• mice show diminished mineralization of intramembranous bones
• perinatal intramembranous ossification deficits
• E18.5 mutants show delayed ossification of the hind- and forelimb distal bones, the mandible (angular process), and skull and is seen as early as E16.5
• by 7 days of age, mice show a normal ossification pattern even though the skeleton is smaller
• decrease in bone rigidity, with mice showing a 33% reduction in Youngs modulus, a size-corrected measure of bone material rigidity
• bone strength of intramembranous bones (frontal bones and clavicles) are reduced

limbs/digits/tail
• humeri are 15% shorter at 1 day of age
• reduction in femoral width, with a 50% smaller bone cortex area than wild-type mice at 3 weeks of age
• femurs are 19% shorter in 3 week old mice

craniofacial
• the intramembranous skull bones are softer than in wild-type mice at E18.5
• diminution of bone tissue in skulls
• calvaria are reduced in size

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
idiopathic scoliosis DOID:0060250 J:243559




Genotype
MGI:5689554
cx5
Allelic
Composition
Runx2tm1Mjo/Runx2+
Runx3tm1Yg/Runx3tm1Yg
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx2tm1Mjo mutation (0 available); any Runx2 mutation (42 available)
Runx3tm1Yg mutation (0 available); any Runx3 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• only a few mice survive to 1 week of age

skeleton
• digital bones of 0.5 day old mice remain grossly cartilaginous indicating delayed skeletal ossification





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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory