Phenotypes associated with this allele

• Allele Symbol: Mef2c⁺
• Allele Name: wild type
• Allele ID: MGI:1857495
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Mef2c^m1Anu/Mef2c^+	C57BL/6NCrl-Mef2c^m1Anu/Anu	MGI:5571308
ht2	Mef2c^tm1Eno/Mef2c^+	involves: 129S7/SvEvBrd	MGI:3719006
cx3	Mef2c^tm1Eno/Mef2c^+ Mef2d^tm1.1Eno/Mef2d^+	involves: 129S7/SvEvBrd	MGI:3719007
cx4	Hdac4^tm1Eno/Hdac4^tm1Eno Mef2c^tm1Eno/Mef2c^+	involves: 129S7/SvEvBrd	MGI:3719020
cx5	Del(6Dlx6-Dlx5)1Tlu/+ Mef2c^tm1Eno/Mef2c^+	involves: 129S7/SvEvBrd	MGI:6209777

Genotype
MGI:5571308

ht1

• Allelic Composition: Mef2c^m1Anu/Mef2c⁺
• Genetic Background: C57BL/6NCrl-Mef2c^m1Anu/Anu

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

normal phenotype

no abnormal phenotype detected ( J:104190 )

• both male and female mice homozygous for this mutation are viable and fertile and exhibit no apparent abnormality.

Genotype
MGI:3719006

ht2

• Allelic Composition: Mef2c^tm1Eno/Mef2c⁺
• Genetic Background: involves: 129S7/SvEvBrd

mortality/aging

mortality/aging ( J:122483 )

N • heterozygotes appear normal at birth and generally survive to weaning; only 1 of 18 mice born is scored as dead or clearly cyanotic and dying, indicating that neonatal viability is not significantly affected relative to wild-type controls

skeleton

failure of sternum ossification ( J:119152 )

• lack ossification within the sternum at P1 and the sternebrae and xiphoid processes remain cartilaginous; sternum shows almost complete absence of trabeculated bone

Genotype
MGI:3719007

cx3

• Allelic Composition: Mef2c^tm1Eno/Mef2c⁺; Mef2d^tm1.1Eno/Mef2d⁺
• Genetic Background: involves: 129S7/SvEvBrd

mortality/aging

neonatal lethality, complete penetrance ( J:119152 )

• die within a day after birth

skeleton

failure of sternum ossification ( J:119152 )

• the lack of ossification in the sternum is more severe than in single Mef2c^tm1Eno heterozygotes

• exhibit almost no hypertrophic chondrocytes in the sternum

Genotype
MGI:3719020

cx4

• Allelic Composition: Hdac4^tm1Eno/Hdac4^tm1Eno; Mef2c^tm1Eno/Mef2c⁺
• Genetic Background: involves: 129S7/SvEvBrd

skeleton

skeleton phenotype ( J:119152 )

N • the failure of endochondral ossification that is seen in heterozygous Mef2c mutants is rescued

Genotype
MGI:6209777

cx5

• Allelic Composition: Del(6Dlx6-Dlx5)1Tlu/+; Mef2c^tm1Eno/Mef2c⁺
• Genetic Background: involves: 129S7/SvEvBrd

mortality/aging

neonatal lethality, complete penetrance ( J:122483 )

• all (9 of 9) double heterozygous mice are clearly cyanotic at birth and die on postnatal day 0 (P0)

craniofacial

abnormal palate development ( J:122483 )

• at P0, mice exhibit a small, misshapen, and incomplete palate

glossoptosis ( J:122483 )

• at P0, mice show an improper position of the tongue at the rear of the oral cavity

homeostasis/metabolism

cyanosis ( J:122483 )

• all mice are clearly cyanotic at birth

growth/size/body

abnormal palate development ( J:122483 )

• at P0, mice exhibit a small, misshapen, and incomplete palate

glossoptosis ( J:122483 )

• at P0, mice show an improper position of the tongue at the rear of the oral cavity

digestive/alimentary system

abnormal palate development ( J:122483 )

• at P0, mice exhibit a small, misshapen, and incomplete palate

glossoptosis ( J:122483 )

• at P0, mice show an improper position of the tongue at the rear of the oral cavity