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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Med23tm1c(KOMP)Wtsi
targeted mutation 1c, Wellcome Trust Sanger Institute
MGI:6502590
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Med23tm1c(KOMP)Wtsi/Med23tm1c(KOMP)Wtsi
H2az2Tg(Wnt1-cre)11Rth/H2az2+
involves: C57BL/6J * C57BL/6N * CBA/J MGI:7344053


Genotype
MGI:7344053
cn1
Allelic
Composition
Med23tm1c(KOMP)Wtsi/Med23tm1c(KOMP)Wtsi
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background
involves: C57BL/6J * C57BL/6N * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (26 available)
Med23tm1c(KOMP)Wtsi mutation (0 available); any Med23 mutation (73 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

behavior/neurological
• at P0, mice exhibit difficulty in feeding

respiratory system
• at P0, nasal cartilage is hypoplastic or absent
• at P0, mice exhibit difficulty in breathing

craniofacial
• by E14.5, severe craniofacial defects, including micrognathia and glossoptosis, are observed
• however, embryos appear morphologically normal until E12.5
• at P0, mice exhibit defects in bone development in the skull
• at E12.5, Meckels cartilage development is delayed
• at E14.5, Meckels cartilage appears to be loosely organized/packed
• at E12.5 and E14.5, Sox9 is upregulated in Meckels cartilage as well as in the mesenchyme surrounding Meckels cartilage
• by E14.5, Meckels cartilage is severely hypoplastic
• at P0, mice exhibit defects in cartilage development in the skull
• at P0, the frontal bone is underdeveloped
• at P0, the temporal bone is underdeveloped; otic bones are hypoplastic
• lower incisors are markedly smaller at E17.5
• at E17.5, upper incisors are developmentally delayed, having only reached the bell stage, whereas control upper incisors are transitioning from the late bell to eruption stage
• at P0, incisors are underdeveloped
• upper and lower molars are developmentally delayed at the bud stage at E14.5 and early bell stage at E17.5
• at P0, the mandible and condylar cartilage are hypoplastic
• at P0, the mandibular symphysis is absent
• at E14.5 and P0, lower jaw is smaller than normal
• at P0, the mandible is still hypoplastic
• micrognathia is detected at E14.5 and becomes more severe at P0
• at E14.5, palatine bones are absent
• Sox9 RNA and protein are upregulated in the frontonasal prominence
• mesenchymal cell proliferation is significantly reduced in E12.5 palatal shelves, resulting in lower cell density and smaller palatal shelves with limited ability to grow and fuse by E14.5
• at E12.5 and E14.5, Sox9 protein (an early marker of migratory NCCs and a master regulator of chondrogenesis) is ectopically expressed in the palatal shelves
• at E12.5, beta-catenin is downregulated in the palatal mesenchyme along with upregulated Sox9 expression and enhanced Sox9 binding to beta-catenin; Lef1 and Ccnd1 (downstream targets of beta-catenin) are also downregulated in the palatal shelves
• mesenchymal cell proliferation is significantly reduced in E12.5 palatal shelves, resulting in lower cell density and smaller palatal shelves with limited ability to grow and fuse by E14.5
• however, no changes in apoptosis are detected at E12.5 or E14.5
• at E14.5 and E17.5, the anterior palatal shelves are hypoplastic and unfused
• 72 hr after ex vivo roller culture, the palatal shelves develop rugae but remain separated and unfused, indicating that cleft palate is independent of tongue development or position
• at E14.5 and E17.5, the anterior palatal shelves are hypoplastic
• at E14.5, the volume of palatal shelves is significantly reduced
• Sox9 RNA and protein are upregulated in the NCCs colonizing the first pharyngeal arch between E9.5 and E11.5
• at E14.5, palatal shelves remain separated by the tongue
• by E17.5, the anterior palatal shelves have elevated above the tongue but still remain far apart
• in posterior sections, the palatal shelves grow vertically beside the tongue, fail to elevate and remain separated by the tongue
• at E17.5, the tongue is misshapen
• glossoptosis is detected at E14.5 and becomes more severe at P0
• at P0, nasal cartilage is hypoplastic or absent

skeleton
• at P0, mice exhibit defects in bone development in the skull
• at E12.5, Meckels cartilage development is delayed
• at E14.5, Meckels cartilage appears to be loosely organized/packed
• at E12.5 and E14.5, Sox9 is upregulated in Meckels cartilage as well as in the mesenchyme surrounding Meckels cartilage
• by E14.5, Meckels cartilage is severely hypoplastic
• at P0, mice exhibit defects in cartilage development in the skull
• at P0, the frontal bone is underdeveloped
• at P0, the temporal bone is underdeveloped; otic bones are hypoplastic
• lower incisors are markedly smaller at E17.5
• at E17.5, upper incisors are developmentally delayed, having only reached the bell stage, whereas control upper incisors are transitioning from the late bell to eruption stage
• at P0, incisors are underdeveloped
• upper and lower molars are developmentally delayed at the bud stage at E14.5 and early bell stage at E17.5
• at P0, the mandible and condylar cartilage are hypoplastic
• at P0, the mandibular symphysis is absent
• at E14.5 and P0, lower jaw is smaller than normal
• at P0, the mandible is still hypoplastic
• micrognathia is detected at E14.5 and becomes more severe at P0
• at E14.5, palatine bones are absent
• at P0, nasal cartilage is hypoplastic or absent

hearing/vestibular/ear

digestive/alimentary system
• mesenchymal cell proliferation is significantly reduced in E12.5 palatal shelves, resulting in lower cell density and smaller palatal shelves with limited ability to grow and fuse by E14.5
• at E12.5 and E14.5, Sox9 protein (an early marker of migratory NCCs and a master regulator of chondrogenesis) is ectopically expressed in the palatal shelves
• at E12.5, beta-catenin is downregulated in the palatal mesenchyme along with upregulated Sox9 expression and enhanced Sox9 binding to beta-catenin; Lef1 and Ccnd1 (downstream targets of beta-catenin) are also downregulated in the palatal shelves
• mesenchymal cell proliferation is significantly reduced in E12.5 palatal shelves, resulting in lower cell density and smaller palatal shelves with limited ability to grow and fuse by E14.5
• however, no changes in apoptosis are detected at E12.5 or E14.5
• at E14.5 and E17.5, the anterior palatal shelves are hypoplastic and unfused
• 72 hr after ex vivo roller culture, the palatal shelves develop rugae but remain separated and unfused, indicating that cleft palate is independent of tongue development or position
• at E14.5 and E17.5, the anterior palatal shelves are hypoplastic
• at E14.5, the volume of palatal shelves is significantly reduced
• at E14.5, palatal shelves remain separated by the tongue
• by E17.5, the anterior palatal shelves have elevated above the tongue but still remain far apart
• in posterior sections, the palatal shelves grow vertically beside the tongue, fail to elevate and remain separated by the tongue
• at E17.5, the tongue is misshapen
• glossoptosis is detected at E14.5 and becomes more severe at P0

growth/size/body
• lower incisors are markedly smaller at E17.5
• at E17.5, upper incisors are developmentally delayed, having only reached the bell stage, whereas control upper incisors are transitioning from the late bell to eruption stage
• at P0, incisors are underdeveloped
• upper and lower molars are developmentally delayed at the bud stage at E14.5 and early bell stage at E17.5
• mesenchymal cell proliferation is significantly reduced in E12.5 palatal shelves, resulting in lower cell density and smaller palatal shelves with limited ability to grow and fuse by E14.5
• at E12.5 and E14.5, Sox9 protein (an early marker of migratory NCCs and a master regulator of chondrogenesis) is ectopically expressed in the palatal shelves
• at E12.5, beta-catenin is downregulated in the palatal mesenchyme along with upregulated Sox9 expression and enhanced Sox9 binding to beta-catenin; Lef1 and Ccnd1 (downstream targets of beta-catenin) are also downregulated in the palatal shelves
• mesenchymal cell proliferation is significantly reduced in E12.5 palatal shelves, resulting in lower cell density and smaller palatal shelves with limited ability to grow and fuse by E14.5
• however, no changes in apoptosis are detected at E12.5 or E14.5
• at E14.5 and E17.5, the anterior palatal shelves are hypoplastic and unfused
• 72 hr after ex vivo roller culture, the palatal shelves develop rugae but remain separated and unfused, indicating that cleft palate is independent of tongue development or position
• at E14.5 and E17.5, the anterior palatal shelves are hypoplastic
• at E14.5, the volume of palatal shelves is significantly reduced
• at E14.5, palatal shelves remain separated by the tongue
• by E17.5, the anterior palatal shelves have elevated above the tongue but still remain far apart
• in posterior sections, the palatal shelves grow vertically beside the tongue, fail to elevate and remain separated by the tongue
• at E17.5, the tongue is misshapen
• glossoptosis is detected at E14.5 and becomes more severe at P0
• at P0, nasal cartilage is hypoplastic or absent

embryo
N
• neural crest cell migration is normal at E10.5
• Sox9 RNA and protein are upregulated in the NCCs colonizing the first pharyngeal arch between E9.5 and E11.5

nervous system
N
• neural crest cell (NCC) differentiation into neurons of the peripheral nervous system is normal at E10.5

cellular
N
• neural crest cell (NCC) migration and early neuronal differentiation is normal at E10.5





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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory