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Phenotypes Associated with This Genotype
Genotype
MGI:6209712
Allelic
Composition
Mef2ctm1Eno/Mef2ctm1Jjs
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (25 available)
Mef2ctm1Eno mutation (0 available); any Mef2c mutation (36 available)
Mef2ctm1Jjs mutation (1 available); any Mef2c mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice are born at normal ratios and are responsive to touch; however, all mice die from asphyxiation caused by upper airway obstruction within an hr of birth
• tracheostomy results in recovery from cyanosis and restoration of viability prior to humane euthanasia

homeostasis/metabolism
• mice become cyanotic soon after birth

respiratory system
• at P0, the upper airway is constricted/obstructed, unlike in control mice

craniofacial
• at P0, the angular processes of the mandibles are severely hypoplastic
• at P0, the condular processes of the mandibles are severely hypoplastic
• at P0, the coronoid processes of the mandibles are severely hypoplastic
• at P0, the mandible is markedly shorter
• neonatal skulls display several defective or missing craniofacial structures
• defects in craniofacial development are observed as early as E13.5
• however, no obvious changes are observed in proliferation or apoptosis at E9.5 or E10.5
• at E16.5, embryos exhibit a hypoplastic Meckels cartilage; hypoplasia is already evident at E13.5, i.e. prior to the onset of ossification
• at E9.5, expression of Dlx5, Dlx6, and Hand2 is almost completely absent in the first and second branchial arches relative to control embryos
• however, Prx1 expression is normal, indicating that overall branchial arch development is not defective at E9.5
• all newborns exhibit a posterior cleft of the palate
• all newborns exhibit defective positioning of the tongue near the back of the oral cavity, unlike control mice

skeleton
• at E16.5, embryos exhibit a hypoplastic Meckels cartilage; hypoplasia is already evident at E13.5, i.e. prior to the onset of ossification
• at P0, the angular processes of the mandibles are severely hypoplastic
• at P0, the condular processes of the mandibles are severely hypoplastic
• at P0, the coronoid processes of the mandibles are severely hypoplastic
• at P0, the mandible is markedly shorter
• at E16.5, embryos exhibit a hypoplastic Meckels cartilage and delayed ossification in the mandible and maxilla relative to control mice

growth/size/body
• all newborns exhibit misshapen heads
• at P0, the angular processes of the mandibles are severely hypoplastic
• at P0, the condular processes of the mandibles are severely hypoplastic
• at P0, the coronoid processes of the mandibles are severely hypoplastic
• at P0, the mandible is markedly shorter
• all newborns exhibit a posterior cleft of the palate
• all newborns exhibit defective positioning of the tongue near the back of the oral cavity, unlike control mice

pigmentation
• embryos show reduced expression of the melanocyte markers Pmel17, Mitf and Dct in multiple regions during embryonic/fetal development
• newborn mice show a significant reduction in the number of DOPA-stained follicular and interfollicular melanocytes in the dermis relative to control mice
• few remaining dermal melanocytes have significantly fewer melanosomes than melanocytes in control mice
• newborn mice exhibit significantly fewer DOPA-stained follicular melanocytes in the epidermis than control mice
• mice exhibit significant loss of pigmentation at birth
• DOPA staining of neonatal skin tissue shows a significant reduction in the number of melanocytes in epidermis and dermis relative to control mice
• in neonatal epidermis, the number of DOPA-stained melanocytes is reduced by 87% relative to control mice
• at E12.5, embryos show only 69% as many Dct-labeled melanocytes in the interlimb region as control embryos
• however, no differences in TUNEL staining or in BrdU incorporation are noted from E11.5 to E18.5
• newborn mice exhibit a 65% reduction in the number of melanosomes in dermal melanocytes relative to control mice

integument
• newborn mice show a significant reduction in the number of DOPA-stained follicular and interfollicular melanocytes in the dermis relative to control mice
• few remaining dermal melanocytes have significantly fewer melanosomes than melanocytes in control mice
• newborn mice exhibit significantly fewer DOPA-stained follicular melanocytes in the epidermis than control mice
• mice exhibit significant loss of pigmentation at birth

hearing/vestibular/ear

digestive/alimentary system
• all newborns exhibit a posterior cleft of the palate
• all newborns exhibit defective positioning of the tongue near the back of the oral cavity, unlike control mice

cellular
• embryos show reduced expression of the melanocyte markers Pmel17, Mitf and Dct in multiple regions during embryonic/fetal development

embryo
• at E9.5, expression of Dlx5, Dlx6, and Hand2 is almost completely absent in the first and second branchial arches relative to control embryos
• however, Prx1 expression is normal, indicating that overall branchial arch development is not defective at E9.5

nervous system
N
• no obvious defects in peripheral or enteric innervation are detected at birth


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
01/06/2026
MGI 6.24
The Jackson Laboratory