normal phenotype
• homozygotes are obtained at the expected Mendelian ratios and show no obvious abnormalities
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Allele Symbol Allele Name Allele ID |
Msctm1Eno targeted mutation 1, Eric N Olson MGI:3655692 |
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Summary |
4 genotypes
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• homozygotes are obtained at the expected Mendelian ratios and show no obvious abnormalities
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• double homozygotes are born alive, but similar to single Tcf21tm2Eno homozygotes, they die within minutes after birth
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• most double homozygotes show a complete absence of the major muscles of mastication, not observed in either single homozygote
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• most double homozygotes show a complete absence of the masseter muscle
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• atrophic pterygoid myofibers are found to persist unilaterally in a subset of double homozygotes
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• most double homozygotes show a complete absence of the medial and lateral pterygoid muscles
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• most double homozygotes show a complete absence of the temporalis muscle
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• at E10.5, TUNEL labeling indicates that first branchial arch muscle precursor cells undergo apoptosis resulting in ablation of masticatory muscles
• notably, other first arch-derived muscles, e.g. the anterior digastric and mylohyoid, which do not function in mastication, are present and trunk muscles appear unaffected
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• double homozygotes exhibit diaphragmatic hernia with visceral organs being displaced into the chest
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• most double homozygotes show a complete absence of the major muscles of mastication, not observed in either single homozygote
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• most double homozygotes show a complete absence of the masseter muscle
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• atrophic pterygoid myofibers are found to persist unilaterally in a subset of double homozygotes
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• most double homozygotes show a complete absence of the medial and lateral pterygoid muscles
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• most double homozygotes show a complete absence of the temporalis muscle
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• double homozygotes exhibit cleft palate
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• palatal shelves do not elevate or elevate unilaterally (Fig. 3c)
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• double homozygotes exhibit cleft palate
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• palatal shelves do not elevate or elevate unilaterally (Fig. 3c)
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• most double homozygotes show a complete absence of the major muscles of mastication, not observed in either single homozygote
|
• most double homozygotes show a complete absence of the masseter muscle
|
• atrophic pterygoid myofibers are found to persist unilaterally in a subset of double homozygotes
|
• most double homozygotes show a complete absence of the medial and lateral pterygoid muscles
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• most double homozygotes show a complete absence of the temporalis muscle
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• double homozygotes exhibit cleft palate
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• palatal shelves do not elevate or elevate unilaterally (Fig. 3c)
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• unlike double homozygotes, mice heterozygous for Msctm1Eno and homozygous for Tcf21tm2Eno exhibit no morphological defects in first branchial arch-derived masticatory skeletal muscles
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• unlike double homozygotes, mice homozygous for Msctm1Eno and heterozygous for Tcf21tm2Eno are viable and exhibit no morphological defects in first branchial arch-derived masticatory skeletal muscles
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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 08/02/2024 MGI 6.24 |
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