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Phenotypes Associated with This Genotype
Genotype
MGI:2684461
Allelic
Composition
Twist1Pas/Twist1+
Genetic
Background
involves: C57BL/6 * PDT/Pas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Twist1Pas mutation (1 available); any Twist1 mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Polydactyly in the right hindlimb of Twist1Pas/Twist1+ mice

craniofacial
• cleft palate and other defects related to craniogenesis are observed approximately 5 % of the time and always in conjunction with polydactyly

limbs/digits/tail
• alterations in pattern development leads to the formation of one, but rarely two extra digits in the preaxial part of one of the hindlimbs, rarely both without left right preference
• penetrance varies with genetic background but is never complete
• genetic analysis reveals that this allele is sufficient to produce the polydactyly phenotype at a low frequency

digestive/alimentary system
• cleft palate and other defects related to craniogenesis are observed approximately 5 % of the time and always in conjunction with polydactyly

growth/size/body
• cleft palate and other defects related to craniogenesis are observed approximately 5 % of the time and always in conjunction with polydactyly

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Saethre-Chotzen syndrome DOID:14768 OMIM:101400
J:86815


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/14/2017
MGI 6.11
The Jackson Laboratory