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Phenotypes Associated with This Genotype
Genotype
MGI:7439354
Allelic
Composition
Dicer1tm1Bdh/Dicer1tm1Bdh
Tg(Pax2-cre)1Akg/0
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1tm1Bdh mutation (6 available); any Dicer1 mutation (96 available)
Tg(Pax2-cre)1Akg mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice exhibit late embryonic lethality at E18.5

craniofacial
• at E17.5, mice exhibit severe craniofacial dysmorphism, including a secondary palatal cleft
• however, orofacial development is not affected prior to E11.5
• at E17.5, mice show complete loss or abrogated development of several cranial neural crest cell (CNC)-derived bones in the viscerocranium, anterior cranial vault, and prechordal skull base
• in contrast, mesoderm-derived skeletal elements of the posterior skull, including the parietal, intraparietal, petrous temporal, basioccipital, exoccipital and supraoccipital, are normal
• at E17.5, the presphenoid, alisphenoid, and orbitosphenoid were absent from the cranial base
• at E17.5, the basisphenoid of the cranial base shows impaired growth
• at E17.5, the medial portion of the frontal bones in the calvaria shows impaired growth
• slight frontal bossing at E17.5
• at E17.5, the alisphenoid is absent
• at E17.5, the orbitosphenoid is absent
• at E17.5, the presphenoid is absent
• at E17.5, the squamosal bone is absent
• reduction in cranial vault size at E17.5
• shallow orbits at E17.5
• at E17.5, the mandible is reduced in size
• at E17.5, the frontal process of the maxilla is reduced in size
• micrognathia at E17.5
• at E17.5, the palatine bones of the maxilla are absent
• at E17.5, the vomer is reduced in size
• at E17.5, the jugal (zygoma) bone is absent
• at E11.5, apoptotic (ApopTag+) cells are detected throughout the orofacial region, esp. in the developing palatal areas
• however, ApopTag+ cells are not observed in the palatal region at E17.5
• at E17.5, the presumptive secondary palate shows only limited mesenchymal condensation and a complete absence of mineralization in the truncated palatal shelves
• secondary palate development is arrested prior to mineralization around E13.5, with a significant increase in the expression levels of apoptotic markers Caspase 3 and Trp53 in palatal tissue esp. at E13.5
• expression levels for senescence marker Cdkn1a (p21) are increased at E11.5 and E13.5
• however, primary palate development and the initial stages of secondary palate formation appear unaffected
• at E16.5, palatal shelves exhibit arrested growth, remaining vertically oriented in position and are morphologically similar to the shelves of an E13.5 wild-type embryo
• at E16.5, intramembranous ossification is completely absent in the palatal shelf region
• in contrast, the nasal septal cartilage, which develops from the Pax2-Cre-negative frontonasal region, is present
• at E16.5, palatal shelves remain vertically oriented in position
• at ~E13.5, palatal shelves are vertically positioned along the side of the tongue but show a slight reduction in size
• midface hypoplasia at E17.5
• complete cleft of the secondary palate at E16.5 and E17.5

growth/size/body
• slight frontal bossing at E17.5
• at E17.5, the presumptive secondary palate shows only limited mesenchymal condensation and a complete absence of mineralization in the truncated palatal shelves
• secondary palate development is arrested prior to mineralization around E13.5, with a significant increase in the expression levels of apoptotic markers Caspase 3 and Trp53 in palatal tissue esp. at E13.5
• expression levels for senescence marker Cdkn1a (p21) are increased at E11.5 and E13.5
• however, primary palate development and the initial stages of secondary palate formation appear unaffected
• at E16.5, palatal shelves exhibit arrested growth, remaining vertically oriented in position and are morphologically similar to the shelves of an E13.5 wild-type embryo
• at E16.5, intramembranous ossification is completely absent in the palatal shelf region
• in contrast, the nasal septal cartilage, which develops from the Pax2-Cre-negative frontonasal region, is present
• at E16.5, palatal shelves remain vertically oriented in position
• at ~E13.5, palatal shelves are vertically positioned along the side of the tongue but show a slight reduction in size
• midface hypoplasia at E17.5
• complete cleft of the secondary palate at E16.5 and E17.5

digestive/alimentary system
• at E17.5, the presumptive secondary palate shows only limited mesenchymal condensation and a complete absence of mineralization in the truncated palatal shelves
• secondary palate development is arrested prior to mineralization around E13.5, with a significant increase in the expression levels of apoptotic markers Caspase 3 and Trp53 in palatal tissue esp. at E13.5
• expression levels for senescence marker Cdkn1a (p21) are increased at E11.5 and E13.5
• however, primary palate development and the initial stages of secondary palate formation appear unaffected
• at E16.5, palatal shelves exhibit arrested growth, remaining vertically oriented in position and are morphologically similar to the shelves of an E13.5 wild-type embryo
• at E16.5, intramembranous ossification is completely absent in the palatal shelf region
• in contrast, the nasal septal cartilage, which develops from the Pax2-Cre-negative frontonasal region, is present
• at E16.5, palatal shelves remain vertically oriented in position
• at ~E13.5, palatal shelves are vertically positioned along the side of the tongue but show a slight reduction in size
• complete cleft of the secondary palate at E16.5 and E17.5

skeleton
• at E17.5, mice show complete loss or abrogated development of several cranial neural crest cell (CNC)-derived bones in the viscerocranium, anterior cranial vault, and prechordal skull base
• in contrast, mesoderm-derived skeletal elements of the posterior skull, including the parietal, intraparietal, petrous temporal, basioccipital, exoccipital and supraoccipital, are normal
• at E17.5, the presphenoid, alisphenoid, and orbitosphenoid were absent from the cranial base
• at E17.5, the basisphenoid of the cranial base shows impaired growth
• at E17.5, the medial portion of the frontal bones in the calvaria shows impaired growth
• slight frontal bossing at E17.5
• at E17.5, the alisphenoid is absent
• at E17.5, the orbitosphenoid is absent
• at E17.5, the presphenoid is absent
• at E17.5, the squamosal bone is absent
• reduction in cranial vault size at E17.5
• shallow orbits at E17.5
• at E17.5, the mandible is reduced in size
• at E17.5, the frontal process of the maxilla is reduced in size
• micrognathia at E17.5
• at E17.5, the palatine bones of the maxilla are absent
• at E17.5, the vomer is reduced in size
• at E17.5, the jugal (zygoma) bone is absent
• at E16.5, intramembranous ossification is completely absent in the palatal shelf region
• in contrast, the nasal septal cartilage, which develops from the Pax2-Cre-negative frontonasal region, is present

vision/eye
• at E17.5, the orbitosphenoid is absent
• shallow orbits at E17.5
• exophthalmos due to shallow orbits at E17.5
• absence of eyelid formation at E17.5

nervous system
• slight cerebral hemorrhage at E17.5

hearing/vestibular/ear
• at E17.5, the tympanic ring is reduced in size

cellular
• at E11.5, the total number of EdU+ cells are markedly reduced in the region of the developing brain and first pharyngeal arch

cardiovascular system
• slight cerebral hemorrhage at E17.5


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
03/25/2025
MGI 6.24
The Jackson Laboratory