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Allele Symbol Allele Name Allele ID |
Pitx2tm2Sac targeted mutation 2, Sally A Camper MGI:1857846 |
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| Summary |
11 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• profound anterior pituitary gland hypoplasia is seen; however the infundibulum appears normal
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• profound anterior pituitary gland hypoplasia is seen; however the infundibulum appears normal
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• the leaflets of the vena cava are defective
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• the membranous portion of the valves is reduced
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• at E12.5 and E13.5 only a single, hugely distended atrium is seen
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• at E12.5, the heart is displaced leftward and ventrally by a proliferating mass of mesoderm cells which combined with a fissure in the ventral body wall results in a final external position
• the orientation of the heart is off by 90 degrees
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• the ventricular septum is dysmorphic
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• progressive enlargement of the heart is seen by E12.5
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• all homozygous embryos bend severely rightward rostral to the developing hindlimb
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• embryos are moderately undersized at E12.5
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• the mesenchymal layer surrounding Rathke's pouch is hypercellular
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• at E10.5 increased cell death is seen in homozygous mutant pouches and apoptotoc cells extend from the oral ectoderm further dorsally into the invaginating pouch than in wild-type embryos
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• growth and differentiation of Rathke's pouch is arrested by E12.5; however initial formation of the pouch at E10.5 is normal
(J:51160)
• the pouch pinches off later in homozygotes and is markedly hypocellular at E12.5
(J:99227)
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• the developing corneal epithelium is thicker than normal
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• at E12.5, the eyes lie below the surface epithelium and are rotated so that the lens does not directly face the surface ectoderm
• at E12.5, the optic cup is separated from the surface ectoderm by an abnormally thick mesenchymal layer
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• mesenchymal condensations that will develop into extrinsic eye muscles are absent at E12.5
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• at E12.5, vestigal lens pits are still present in some eyes
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• at E12.5, closure of the optic fissure is delayed or defective
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• at E12.5 homozygous eyes are smaller than normal
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• at E13.5 fewer neurons in the developing mesencephalon or future superior colliculus are labeled by retrograde diI labeling suggesting impaired radial or tangential migration; however the number of cells in M phase is not different from wild-type
• by E13.5, 4 of 5 homozygotes fail to develop projections from the subthalamic nucleus to the tegmentum
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• the mesenchymal layer surrounding Rathke's pouch is hypercellular
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• at E10.5 increased cell death is seen in homozygous mutant pouches and apoptotoc cells extend from the oral ectoderm further dorsally into the invaginating pouch than in wild-type embryos
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• growth and differentiation of Rathke's pouch is arrested by E12.5; however initial formation of the pouch at E10.5 is normal
(J:51160)
• the pouch pinches off later in homozygotes and is markedly hypocellular at E12.5
(J:99227)
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• in about 5% of embryos the crown of the head is open over the midbrain
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• progressive enlargement of the heart is seen by E12.5
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• embryos are moderately undersized at E12.5
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• a large fissure in the ventral body wall results in the heart, liver, and other abdominal organs being external and displaced leftward and outward at E12.5
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• mesenchymal condensations that will develop into extrinsic eye muscles are absent at E12.5
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• at E13.5 fewer neurons in the developing mesencephalon or future superior colliculus are labeled by retrograde diI labeling suggesting impaired radial or tangential migration; however the number of cells in M phase is not different from wild-type
• by E13.5, 4 of 5 homozygotes fail to develop projections from the subthalamic nucleus to the tegmentum
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• multiple pupillary openings are seen in about 10% of heterozygotes
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• seen in about 10% of heterozygotes
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• seen in about 10% of heterozygotes
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• 2 of about 30 have small eyes
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• 2 of about 30 have mal-occluded incisors
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• 2 of about 30 have mal-occluded incisors
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• 2 of about 30 have mal-occluded incisors
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• 2 of about 30 have mal-occluded incisors
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• 2 of about 30 have mal-occluded incisors
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• 2 of about 30 have mal-occluded incisors
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• 2 of about 30 are about 1/3 the size of wild-type males
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Axenfeld-Rieger syndrome type 1 | DOID:0110120 |
OMIM:180500 |
J:51160 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• abdominal and abdominal viscera defects similar to in Pitx2tm2Sac homozygotes
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• distal turning defect similar to in Pitx2tm2Sac homozygotes
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• mice lack migration of subthalamic neurons and recruitment of their projections into an expanded mammillotegmental tract
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• mice lack migration of subthalamic neurons and recruitment of their projections into an expanded mammillotegmental tract
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• similar to in Pitx2tm2Sac homozygotes
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• medially displaced
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• severe
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• mice lack migration of subthalamic neurons and recruitment of their projections into an expanded mammillotegmental tract
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• severe
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• severe
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• an intermediate reduction in the size of Rathke's pouch is seen in compound heterozygotes compared to mice homozygous for Pitx2tm2Sac; however the infundibulum appears normal
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• an intermediate reduction in the size of Rathke's pouch is seen in compound heterozygotes compared to mice homozygous for Pitx2tm2Sac; however the infundibulum appears normal
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• devoid of pigment except for a cone shaped region in the anterior segment
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• retinal pigment layer is normal at E10.5 but pigment loss begins at E12.5
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• corneal stroma and epithelium are absent
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• hypomorphic hyaloid blood vessels
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• muscle bundles present adjacent to the anterior segment
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• eye stalk fails to extend at E12.5
• eyes directly attached to ventral diencephalon by E14.5
• retinal ganglion cell axons enter ventral thalamus and form an optic chiasma-like structure
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• eyes are not visible externally at E16.5
• eyes present but buried within the skull near the midline directly beneath the brain
• lens and retina present
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• devoid of pigment except for a cone shaped region in the anterior segment
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• retinal pigment layer is normal at E10.5 but pigment loss begins at E12.5
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• muscle bundles present adjacent to the anterior segment
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• unlike Pitx2 null mice, mice exhibit normal gonadal development, puberty and fertility
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| N |
• unlike Pitx2 null mice, growth rates and weights are normal
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at 5 weeks, males and females have lower body weights than control littermates; female weight differences are greatest at 5 weeks, but are also lower at other post-weaning ages (weeks 4 through 8) while difference is smaller but still significant in males at 5 weeks
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| N |
• at 8 weeks, circulating thyroid-stimulating hormone (TSH) levels are not different in mutants and controls
• serum levels of total thyroxine (T4) are within normal ranges for male and female mutants
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• following dietary-induced hypothyroidism for 4 weeks, mutants have a 48-fold increase in serum TSH levels, but this increase is inferior to the 80-fold increased serum TSH seen in controls fed the same low iodine diet for 4 weeks
• mutant thus show a blunted TSH response to hypothyroidism relative to controls
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• thyroid gland volume is smaller in mutants than in controls; however, follicular size and height of follicular epithelia are indistinguishable from controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• both stylopod and autopod severely affected
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• both stylopod and autopod severely affected
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• reduced hindlimb bud
• extends across 2 somites centering on somite 27
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• reduced hindlimb bud
• extends across 2 somites centering on somite 27
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• failure of stylopod (femur) development
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• failure of stylopod (femur) development
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• become cyanotic immediately after birth and die
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• stenosis of the pulmonary trunk
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• exhibit severe cardiac defects with incomplete penetrance (about 60%) at E15.5, E18.5 and in newborns
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• enlarged atrioventricular canal at E10.5
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• occasionally see malformation of the coronary vessels
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• occasionally see mispositioning of the aorta
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• some show the aorta and the pulmonary artery arising from the right ventricle
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• abnormal drainage of the pulmonary vein into a common instead of the left atrium
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• atrioventricular valve defects
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• atrial septal defects
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• hearts are malformed, however they are properly patterned in the atrioventricular canal and around the inner curvature
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• reduced ventricular expansion and abnormal ventricular shape are seen at E10.5
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• ventricular septal defects
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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 06/12/2024 MGI 6.13 |
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