Twist1 | twist basic helix-loop-helix transcription factor 1

GeneMGI:98872Synonyms: pdt, charlie chaplin, +5 more

Physiological systems

15 / 24 physiological systems tested

7 Significantly impacted by the knock-out

 Integument Adipose tissue Growth/size/body region Limbs/digits/tail Nervous system Skeleton Craniofacial

8 No significant impact

9 Not tested

Data collections

LacZ expression
Histopathology
Images
How IMPC generates data
Viability data
Body weight measurements
Embryo imaging data
Gene metrics:13Significant phenotypes
7Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

abnormal nail morphology1 supporting datasetTwist1em1(IMPC)RbrcheterozygoteLate adult7.39x10-14 
abnormal pelvic girdle bone morphology1 supporting datasetTwist1em1(IMPC)RbrcheterozygoteEarly adult4.67x10-6 
abnormal brain morphology2 supporting datasetsTwist1em1(IMPC)RbrcheterozygoteEarly adultN/A * 
abnormal nail morphology2 supporting datasetsTwist1em1(IMPC)RbrcheterozygoteEarly adult1.74x10-15 
abnormal autopod morphology2 supporting datasetsTwist1em1(IMPC)RbrcheterozygoteEarly adult1.74x10-15 
abnormal digit morphology3 supporting datasetsTwist1em1(IMPC)RbrcheterozygoteEarly adult1.23x10-21 
abnormal vertebral arch morphology2 supporting datasetsTwist1em1(IMPC)RbrcheterozygoteEarly adult2.39x10-6 
abnormal cranium morphology1 supporting datasetTwist1em1(IMPC)RbrcheterozygoteEarly adult4.18x10-10 
decreased total body fat amount1 supporting datasetTwist1em1(IMPC)RbrcheterozygoteEarly adult1.39x10-5 
abnormal zygomatic bone morphology1 supporting datasetTwist1em1(IMPC)RbrcheterozygoteEarly adult6.97x10-11 
* Does not have a P-value assigned because it was manually marked as significant.
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* This parameter was manually assessed for significance.
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lacZ Expression

Human diseases caused by Twist1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.






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Histopathology

IMPC related publications

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Twist1em1(IMPC)RbrcWhole-gene deletionmouse
Twist1tm413867(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)KO first allele (reporter-tagged insertion with conditional potential)targeting vector

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