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Allele Symbol Allele Name Allele ID |
Pbx1tm1Mlc targeted mutation 1, Michael L Cleary MGI:2155612 |
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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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• small nose
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• small nose
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• lethality occurs between E15.5 and E16.5 as a result of anemia
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• diminished chrondocyte proliferation by E13.5
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• abnormal skull and hyoid bone in embryonic skeleton
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• at E16, the styloid process is thickened and truncated displaying characteristics of the malleus
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• at E16, the lesser horn is transformed into an elongated cartilage that resembles Meckel's cartilage
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• abnormal malleus in embryonic skeleton
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• homeotic transformation of cartilage structures derived from the second arches into structures resembling first arch artery cartilages
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• pinna are hypoplastic and malformed at E13.5
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• dorsal and ventral pancreatic hypoplasia at E14
• impaired dorsal endocrine cell differentiation
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• stomach hypoplasia
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• agenesis of ventral portions of all ribs
• abnormalities in structures derived from occipital arch, otic capsule and parachrodal plate
• acclerated chrondocyte maturation
• diminished chrondocyte proliferation by E13.5
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• malformations in proximal limbs and limb girdles
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• homeotic transformation of cartilage structures derived from the second arches into structures resembling first arch artery cartilages
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• vertebral and rib malformations showed some asymmetries
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• forelimb and proximal hindlimb malformations
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• dorsal and ventral pancreatic hypoplasia at E14
• impaired dorsal endocrine cell differentiation
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• absence of islet cells
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• abnormal malleus in embryonic skeleton
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• pinna are hypoplastic and malformed at E13.5
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• reduced number of cells in liver
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• unable to establish multilineage hematopoiesis
• decreased numbers of common myeloid progenitors at E14
• reduced proliferative capacity of common myeloid progenitors
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• decreased number of circulating erythrocytes
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• decrease in hematocrit and circulating erythrocytes
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• spleen aplasia
(J:70684)
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• subcutaneous edema evident at E12.5
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• spleen aplasia
(J:70684)
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• forelimb and proximal hindlimb malformations
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• proximal humerus fused to scapula, malformed femur
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• decreased in number of cells, erthyroid and nonerythroid lineages
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• at E13.0, the cortical region is poorly defined, unlike in control embryos
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• a few glomerular structures are seen at E15.0
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• at E14.5, the metanephric mesenchyme shows a delay in tubular differentiation and expanded mesenchymal condensates around the ureteric bud tips
• newly formed mesenchymal condensations contain up to 15 cell layers in mutant kidneys relative to 2-4 layers in wild-type kidneys
• at E14.5, BrdU staining revealed high levels of proliferation in the expanded regions of induced mesenchyme
• however, specification and patterning of the stromal compartment is normal
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• differentiation of the nephrogenic mesenchyme into nephrons is severely reduced
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• at E14.5, mutant metanephroi display an increase in the condensing mesenchyme surrounding ureteric tips
• heterologous recombination studies with explant cultures revealed that defects in metanephric development arise from mesenchymal dysfunction
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• at E14.5, mutant kidneys display few comma-and S-shaped structures and lack mature glomeruli, unlike in control embryos
• at E14.5, the nephrogenic zone is severely attenuated
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• at E14.5, epithelial conversion of the mutant mesenchyme is delayed; however, nephrogenesis is not completely blocked as few glomerular structures are seen at E15.0
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• at E13.0, the medullary region is poorly defined, unlike in control embryos
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• at E13.0, mutant kidneys are smaller than wild-type
• at E14.5, mutant kidneys are less than half the size of controls
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• at E13.0, most mutant embryos show bilateral formation of hypoplastic kidneys
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• at E13.0, a decreased number of differentiating nephrons is observed relative to control embryos
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• at E13.0, mutant kidneys are rotated ventrally and mispositioned caudally in the body cavity
(J:82126)
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• at E13.0, unilateral renal agenesis seen in ~30% of embryos analyzed (right, 36%; left, 64%)
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• at E14.5, a 3-fold reduction in the number of ureteric bud tips is observed in the renal cortex relative to wild-type controls
• at E14.5, the ureteric tree appears disorganized; ureteric bifurcations are less defined resulting in a webbed pattern at branch points
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• at E14.5, a dichotomous branching pattern is maintained; however, elongation of the ureter is impaired with shorter intervals between subsequent branches
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• impaired differentiation of gonads
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• diminished chrondocyte proliferation by E13.5
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• proximal humerus fused to scapula, malformed femur
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• abnormal clavicle in embyonic skeleton
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• abnormal proximal scapula in embryonic skeleton
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• abnormal pelvic girdle in embryonic skeleton
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• abnormal skull, rib, sternum and vertebrae development in embryonic skeleton
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• abnormal skull and hyoid bone in embryonic skeleton
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• at E16, the styloid process is thickened and truncated displaying characteristics of the malleus
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• at E16, the lesser horn is transformed into an elongated cartilage that resembles Meckel's cartilage
|
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• abnormal malleus in embryonic skeleton
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• acclerated chrondocyte maturation in embryonic cartilage
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• pinna are hypoplastic and malformed at E13.5
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• slender thorax and abdomen at E13.5
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• subcutaneous edema evident at E12.5
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• fundus of stomach herniated into thorax in one of three mice
• abnormal muscle patterning in the diaphragm
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• abnormal clustering of islets
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• inappropriate decrease in insulin secretion following glucose challenge
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• inappropriate decrease in insulin secretion following glucose challenge
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• embryos die by E15 with significant defects in myeloid development
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• B cells are significantly reduced in irradiated recipient mice 8- and 12- weeks after transfer of fetal liver cells from mutant embryos
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• CD4 T cells are reduced in irradiated recipient mice 8- and 12- weeks after transfer of fetal liver cells from mutant embryos
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• CD8 T cells are reduced in irradiated recipient mice 8- and 12- weeks after transfer of fetal liver cells from mutant embryos
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• B cells are significantly reduced in irradiated recipient mice 8- and 12- weeks after transfer of fetal liver cells from mutant embryos
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• CD4 T cells are reduced in irradiated recipient mice 8- and 12- weeks after transfer of fetal liver cells from mutant embryos
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• CD8 T cells are reduced in irradiated recipient mice 8- and 12- weeks after transfer of fetal liver cells from mutant embryos
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• lymph node follicles are disorganized in irradiated recipient mice after transfer of fetal liver cells from mutant embryos
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• fetal liver is about 20% size of normal
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• bilateral cleft lip in all mice
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• bilateral cleft lip in all mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• defects in the stem cell compartment are identical to mice heterozygous for Pbx1tm1Mlc and
Pbx1tm3.1Mlc and carrying Tg(Tek-cre)1Ywa
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• reduction in the number of common lymphoid progenitor cells
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• assays indicate that long term hematopoietic stem cells are impaired in self renewal
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• significant reduction in the number of long term hematopoietic stem cells
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• pronounced histological disorganization is seen in young mice
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• seen in young mice
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• decrease in size is mainly the result of a decrease in the number of CD45+ hematopoietic cells
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• slight decrease in the number of granulocyte-monocyte progenitor (GMP) cells
• decrease in the frequency of colony forming cells in semi solid culture
• reduction in stem cell and progenitor cell numbers increases progressively with age starting around 2 weeks of age
• in competitive repopulation assays mutant bone marrow cells are unable to compete with wild-type cells
• cells can engraft under noncompetitive conditions but show long term progressive graft failure
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• mild decrease
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• decrease in B cell numbers is first significant at the pro-B stage
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• hypocellular mostly as a result of a decrease in the numbers of B lineage cells
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• marked reduction in the number of common lymphoid progenitor cells
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• in the bone marrow
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• of the subpopulations of B cells, pre-B cells are the most reduced in number
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• all T cell lineages are reduced in number in the thymus starting from the earliest immature DN1 stage
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• decrease in the number of DN1 cells
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• increase in proliferation of long term hematopoietic stem cells suggesting a decrease in the pool of quiescent stem cells
• secondary transplant assays indicate that long term hematopoietic stem cells are impaired in self renewal
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• marked reduction in the Lin-c-Kit+Sca-1+ cell population
• significant reduction in the number of long term hematopoietic stem cells
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• pronounced histological disorganization is seen in young mice
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• seen in young mice
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• decrease in size is mainly the result of a decrease in the number of CD45+ hematopoietic cells
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• pronounced histological disorganization is seen in young mice
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• seen in young mice
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• decrease in size is mainly the result of a decrease in the number of CD45+ hematopoietic cells
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• decrease in B cell numbers is first significant at the pro-B stage
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• in the bone marrow
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• of the subpopulations of B cells, pre-B cells are the most reduced in number
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• all T cell lineages are reduced in number in the thymus starting from the earliest immature DN1 stage
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• decrease in the number of DN1 cells
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• pronounced histological disorganization is seen in young mice
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• seen in young mice
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• decrease in size is mainly the result of a decrease in the number of CD45+ hematopoietic cells
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• pronounced histological disorganization is seen in young mice
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• seen in young mice
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• decrease in size is mainly the result of a decrease in the number of CD45+ hematopoietic cells
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• bilateral or unilateral
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• abnormally fused at E11.5 with persistence of an abnormal bridge connecting their posterior aspects to the anterior maxillary process
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• abnormally fused at E11.5 with persistence of an abnormal bridge connecting their posterior aspects to the anterior maxillary process
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• abnormally fused at E11.5 with persistence of an abnormal bridge connecting their posterior aspects to the anterior maxillary process
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• bilateral or unilateral cleft lip and/or palate
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• bilateral or unilateral cleft lip and/or palate
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• small nose
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• bilateral or unilateral
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• bilateral or unilateral cleft lip and/or palate
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• bilateral or unilateral cleft lip and/or palate
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• small nose
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• bilateral or unilateral
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• bilateral or unilateral cleft lip and/or palate
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• bilateral or unilateral cleft lip and/or palate
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• bilateral or unilateral cleft lip and/or palate
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• small nose
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• bilateral or unilateral
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• bilateral or unilateral cleft lip and/or palate
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• bilateral or unilateral cleft lip and/or palate
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• bilateral or unilateral cleft lip and/or palate
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• bilateral or unilateral cleft lip and/or palate
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• small nose
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• disrupted architecture, inappropriate cell types interspersed with beta cells
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• 9-10 weeks
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• onset between 9-10 weeks, progresses to overt diabetes
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| type 2 diabetes mellitus | DOID:9352 |
OMIM:125853 OMIM:601283 OMIM:601407 OMIM:603694 OMIM:608036 |
J:75811 | |
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 05/07/2024 MGI 6.23 |
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