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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Twist1Ska10
skeletal/axial 10
MGI:3038818
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Twist1Ska10/Twist1Ska10 C57BL/6J-Twist1Ska10 MGI:3582551
ht2
Twist1Ska10/Twist1+ C57BL/6J-Twist1Ska10 MGI:3582549
ht3
Twist1Ska10/Twist1+ involves: C57BL/6J MGI:3513873


Genotype
MGI:3582551
hm1
Allelic
Composition
Twist1Ska10/Twist1Ska10
Genetic
Background
C57BL/6J-Twist1Ska10
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Twist1Ska10 mutation (1 available); any Twist1 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes die immediately after birth

limbs/digits/tail
• at E16, homozygotes display polydactyly of the hindlimbs
• at E16, homozygotes have short limbs relative to wild-type mice

skeleton
• in mutant ribs, accelerated endochondral ossification leads to premature osteoblast differentiation
• beginning at E15, homozygotes exhibit a consistently thicker bone collar relative to wild-type mice
• histologically, E15 mutant ribs resemble E16 rather than E15 wild-type ribs; osteocalcin is detected as early as E15 in mutant ribs but remains absent in wild-type E15 and 16 ribs
• at E18, wild-type and mutant ribs are comparable in morphology, although mutant ribs have a thicker bone collar and consistently contain more trabeculae relative to wild-type
• at E16, mutant (but not wild-type) ribs are surrounded by a thick bone collar and contain bone trabeculae in the diaphysis, indicating advanced bone formation
• at E14 and E15, mutant ribs show a slight increase in hypertrophic chondrocytes relative to wild-type ribs
• at E16, chondrocyte hypertrophy is markedly increased in wild-type ribs but noticeably reduced in mutant ribs

nervous system
N
• at E16, homozygotes do NOT display any overt neural tube defects

cellular
• in mutant ribs, accelerated endochondral ossification leads to premature osteoblast differentiation




Genotype
MGI:3582549
ht2
Allelic
Composition
Twist1Ska10/Twist1+
Genetic
Background
C57BL/6J-Twist1Ska10
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Twist1Ska10 mutation (1 available); any Twist1 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• heterozygotes have extra digits on both hindlimbs

skeleton
• heterozygotes exhibit craniosynostosis with irregular lamboidal and coronal suture lines; at P10, mutant skulls have abnormally closed sutures




Genotype
MGI:3513873
ht3
Allelic
Composition
Twist1Ska10/Twist1+
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Twist1Ska10 mutation (1 available); any Twist1 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• splayed gait

growth/size/body
• reported to be small

limbs/digits/tail
• polydactyl hind feet
• shortened, widened long bones

skeleton
• shortened, widened long bones





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
04/16/2024
MGI 6.23
The Jackson Laboratory