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Phenotypes Associated with This Genotype
Genotype
MGI:3057279
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


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
04/09/2024
MGI 6.23
The Jackson Laboratory