All Phenotypes Twist1<tm1Bhr> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Twist1^tm1Bhr
targeted mutation 1, Richard R Behringer
MGI:1857265

Summary

17 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Twist1^tm1Bhr/Twist1^tm1Bhr	involves: 129S7/SvEvBrd	MGI:3587776
hm2	Twist1^tm1Bhr/Twist1^tm1Bhr	involves: 129S7/SvEvBrd * C57BL/6	MGI:2386978
hm3	Twist1^tm1Bhr/Twist1^tm1Bhr	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3768522
ht4	Twist1^tm1Bhr/Twist1⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:2667352
ht5	Twist1^tm1Bhr/Twist1⁺	involves: 129S7/SvEvBrd	MGI:5000539
ht6	Twist1^tm1Bhr/Twist1⁺	involves: 129S7/SvEvBrd * C57BL/6	MGI:2386979
ht7	Twist1^tm1Bhr/Twist1⁺	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3768523
ht8	Twist1^tm1Bhr/Twist1⁺	involves: 129S/Sv * 129X1/SvJ * C57BL/6	MGI:3582482
ht9	Twist1^tm1Bhr/Twist1^tm2Bhr	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3768524
ht10	Twist1^tm1Bhr/Twist1^tm2.1Bhr	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3768521
cx11	Id1^tm1Zhu/Id1^tm1Zhu Id3^tm1Zhu/Id3⁺ Twist1^tm1Bhr/Twist1⁺	involves: 129S1/Sv * 129S4/SvJaeSor * 129S7/SvEvBrd	MGI:5000538
cx12	Id1^tm1Zhu/Id1⁺ Id3^tm1Zhu/Id3⁺ Twist1^tm1Bhr/Twist1⁺	involves: 129S1/Sv * 129S4/SvJaeSor * 129S7/SvEvBrd	MGI:5000537
cx13	Id1^tm1Zhu/Id1^tm1Zhu Twist1^tm1Bhr/Twist1⁺	involves: 129S1/Sv * 129S7/SvEvBrd	MGI:5000536
cx14	Msx2^tm1Rilm/Msx2⁺ Twist1^tm1Bhr/Twist1⁺	involves: 129S4/SvJae * 129S7/SvEvBrd * BALB/c * C57BL/6	MGI:3050895
cx15	Lse/Lse⁺ Twist1^tm1Bhr/Twist1⁺	involves: 129S7/SvEvBrd * C3H/HeJ * C57BL/6J	MGI:7705898
cx16	Runx2^tm1Mjo/Runx2⁺ Twist1^tm1Bhr/Twist1⁺	involves: 129S7/SvEvBrd * C57BL/6	MGI:3582479
cx17	Twist1^tm1Bhr/Twist1⁺ Twist2^tm1(cre)Dor/Twist2⁺	involves: 129/Sv * 129X1/SvJ	MGI:3038295

Allelic Composition	Twist1^tm1Bhr/Twist1^tm1Bhr
Genetic Background	involves: 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Twist1^tm1Bhr mutation (4 available); any Twist1 mutation (18 available)

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

muscle

abnormal muscle development ( J:124278 )

• cranial muscle patterning and differentiation are abnormal as determined by marker expression

Allelic Composition	Twist1^tm1Bhr/Twist1^tm1Bhr
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Twist1^tm1Bhr mutation (4 available); any Twist1 mutation (18 available)

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

mortality/aging

embryonic lethality, complete penetrance ( J:24349 )

• die by E11.5

nervous system

open neural tube ( J:24349 )

• often accompanied by cranial neural fold hemorrhages; caudal region open, but trunk region often closed

exencephaly ( J:24349 )

• neural tube open from anterior extremity to rhombemere 4

embryo

open neural tube ( J:24349 )

• often accompanied by cranial neural fold hemorrhages; caudal region open, but trunk region often closed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Saethre-Chotzen syndrome		DOID:14768	OMIM:101400 OMIM:180750	J:44379

Allelic Composition	Twist1^tm1Bhr/Twist1^tm1Bhr
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Twist1^tm1Bhr mutation (4 available); any Twist1 mutation (18 available)

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

cardiovascular system

internal hemorrhage ( J:128714 )

• at E11.5, blood pooling in the cranial region is observed

limbs/digits/tail

abnormal forelimb morphology ( J:128714 )

• at E11.5, forelimbs are reduced in size compared to wild-type mice

nervous system

exencephaly ( J:128714 )

Allelic Composition	Twist1^tm1Bhr/Twist1⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Twist1^tm1Bhr mutation (4 available); any Twist1 mutation (18 available)

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

craniofacial

craniofacial phenotype ( J:79294 )

N	• the overall shape of the neurocranium was normal

temporal bone hypoplasia ( J:79294 )

• poorly developed

limbs/digits/tail

abnormal limb morphology ( J:79294 )

• observed in 71% of mice

skeleton

temporal bone hypoplasia ( J:79294 )

• poorly developed

premature cranial suture closure ( J:79294 )

• cranial suture abnormalities were observed in 89% of mice

• 68% showed complete or partial craniosynostosis of the occipitointerparietal (OIP) suture

premature coronal suture closure ( J:79294 )

• 57% showed complete or partial craniosynostosis of the coronal suture

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Saethre-Chotzen syndrome		DOID:14768	OMIM:101400 OMIM:180750	J:79294

Allelic Composition	Twist1^tm1Bhr/Twist1⁺
Genetic Background	involves: 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Twist1^tm1Bhr mutation (4 available); any Twist1 mutation (18 available)

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

skeleton

premature cranial suture closure ( J:108218 )

• 88% penetrance

Allelic Composition	Twist1^tm1Bhr/Twist1⁺
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Twist1^tm1Bhr mutation (4 available); any Twist1 mutation (18 available)

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

craniofacial

enlarged interparietal bone ( J:44379 )

• overdeveloped; 10% larger and 20% longer, on average

limbs/digits/tail

polydactyly ( J:44379 )

• extra digits found on hindlimbs; usually affecting metatarsus and three phlanges

skeleton

enlarged interparietal bone ( J:44379 )

• overdeveloped; 10% larger and 20% longer, on average

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Saethre-Chotzen syndrome		DOID:14768	OMIM:101400 OMIM:180750	J:44379

Allelic Composition	Twist1^tm1Bhr/Twist1⁺
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Twist1^tm1Bhr mutation (4 available); any Twist1 mutation (18 available)

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

craniofacial

short temporal bone squamous part ( J:128714 )

• in all mice at E18.5

limbs/digits/tail

polydactyly ( J:128714 )

• at E18.5, 10 of 18 mice exhibit hindlimb polydactyly

skeleton

short temporal bone squamous part ( J:128714 )

• in all mice at E18.5

Allelic Composition	Twist1^tm1Bhr/Twist1⁺
Genetic Background	involves: 129S/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Twist1^tm1Bhr mutation (4 available); any Twist1 mutation (18 available)

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

skeleton

abnormal osteoblast differentiation ( J:90056 )

• at E15 and E16, heterozygous null skulls display a broader zone of mineralized trabeculae in the parietal bone relative to wild-type; osteocalcin is already detectable in the parietal bone and extends toward the midline

• at P2, mineralized trabeculae have reached the midline suture in heterozygous but not in wild-type skulls; osteocalcin is abnormally detectable on both sides of the suture and reaches the midline, indicating premature osteoblast differentiation

premature cranial suture closure ( J:90056 )

• in heterozygous null skulls, premature osteoblast differentiation leads to premature suture closure

cellular

abnormal osteoblast differentiation ( J:90056 )

Allelic Composition	Twist1^tm1Bhr/Twist1^tm2Bhr
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Twist1^tm1Bhr mutation (4 available); any Twist1 mutation (18 available)
Twist1^tm2Bhr mutation (1 available); any Twist1 mutation (18 available)

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

craniofacial

short temporal bone squamous part ( J:128714 )

• in all mice at E18.5

limbs/digits/tail

polydactyly ( J:128714 )

• at E18.5, 10 of 20 mice exhibit hindlimb polydactyly

skeleton

short temporal bone squamous part ( J:128714 )

• in all mice at E18.5

Allelic Composition	Twist1^tm1Bhr/Twist1^tm2.1Bhr
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Twist1^tm1Bhr mutation (4 available); any Twist1 mutation (18 available)
Twist1^tm2.1Bhr mutation (0 available); any Twist1 mutation (18 available)

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

cardiovascular system

internal hemorrhage ( J:128714 )

• at E11.5, blood pooling in the cranial region is observed

limbs/digits/tail

abnormal forelimb morphology ( J:128714 )

• at E11.5, forelimbs are reduced in size compared to wild-type mice

nervous system

exencephaly ( J:128714 )

Allelic Composition	Id1^tm1Zhu/Id1^tm1Zhu Id3^tm1Zhu/Id3⁺ Twist1^tm1Bhr/Twist1⁺
Genetic Background	involves: 129S1/Sv * 129S4/SvJaeSor * 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Id1^tm1Zhu mutation (0 available); any Id1 mutation (10 available)
Id3^tm1Zhu mutation (1 available); any Id3 mutation (16 available)
Twist1^tm1Bhr mutation (4 available); any Twist1 mutation (18 available)

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

skeleton

skeleton phenotype ( J:108218 )

N	• mice do not exhibit craniosynostosis unlike in Twist1^tm1Bhr heterozygotes

Allelic Composition	Id1^tm1Zhu/Id1⁺ Id3^tm1Zhu/Id3⁺ Twist1^tm1Bhr/Twist1⁺
Genetic Background	involves: 129S1/Sv * 129S4/SvJaeSor * 129S7/SvEvBrd

Find Mice

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

skeleton

premature cranial suture closure ( J:108218 )

• 5% penetrance

Allelic Composition	Id1^tm1Zhu/Id1^tm1Zhu Twist1^tm1Bhr/Twist1⁺
Genetic Background	involves: 129S1/Sv * 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Id1^tm1Zhu mutation (0 available); any Id1 mutation (10 available)
Twist1^tm1Bhr mutation (4 available); any Twist1 mutation (18 available)

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

skeleton

premature cranial suture closure ( J:108218 )

• 76% penetrance

Allelic Composition	Msx2^tm1Rilm/Msx2⁺ Twist1^tm1Bhr/Twist1⁺
Genetic Background	involves: 129S4/SvJae * 129S7/SvEvBrd * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx2^tm1Rilm mutation (1 available); any Msx2 mutation (23 available)
Twist1^tm1Bhr mutation (4 available); any Twist1 mutation (18 available)

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

craniofacial

frontal bone foramen ( J:87044 )

• in double heterozygotes, the frontal foramen phenotype is 3x more severe than in either single heterozygote

limbs/digits/tail

polydactyly ( J:87044 )

• in double heterozygotes, the incidence of digit duplication is identical to that observed in Twist1^tm1Bhr heterozygotes (34%)

skeleton

frontal bone foramen ( J:87044 )

• in double heterozygotes, the frontal foramen phenotype is 3x more severe than in either single heterozygote

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Saethre-Chotzen syndrome		DOID:14768	OMIM:101400 OMIM:180750	J:87044

Allelic Composition	Lse/Lse⁺ Twist1^tm1Bhr/Twist1⁺
Genetic Background	involves: 129S7/SvEvBrd * C3H/HeJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lse mutation (1 available); any Lse mutation (1 available)
Twist1^tm1Bhr mutation (4 available); any Twist1 mutation (18 available)

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

mortality/aging

preweaning lethality, complete penetrance ( J:338204 )

craniofacial

cleft palate ( J:338204 )

• apparent posterior cleft at E18.5 in microCT scans

cleft soft palate ( J:338204 )

• epiglottal soft-tissue cleft in the posterior soft palate

lowered ear position ( J:338204 )

• at E18.5

behavior/neurological

absent gastric milk in neonates ( J:338204 )

• at P0

limbs/digits/tail

polydactyly ( J:338204 )

• hindlimb polydactyly

growth/size/body

cleft palate ( J:338204 )

• apparent posterior cleft at E18.5 in microCT scans

cleft soft palate ( J:338204 )

• epiglottal soft-tissue cleft in the posterior soft palate

lowered ear position ( J:338204 )

• at E18.5

distended abdomen ( J:338204 )

• air-filled swollen abdomens at P0

hearing/vestibular/ear

lowered ear position ( J:338204 )

• at E18.5

digestive/alimentary system

cleft palate ( J:338204 )

• apparent posterior cleft at E18.5 in microCT scans

cleft soft palate ( J:338204 )

• epiglottal soft-tissue cleft in the posterior soft palate

Allelic Composition	Runx2^tm1Mjo/Runx2⁺ Twist1^tm1Bhr/Twist1⁺
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx2^tm1Mjo mutation (0 available); any Runx2 mutation (44 available)
Twist1^tm1Bhr mutation (4 available); any Twist1 mutation (18 available)

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

craniofacial

craniofacial phenotype ( J:90056 )

N	• in contrast to the craniosynostotic Twist1^tm1Bhr heterozygotes, 10-day-old mice doubly heterozygous for Runx2^tm1Mjo and Twist1^tm1Bhr exhibit a normally shaped skull, intraparietal bones of nearly normal size, and no premature fusion of coronal sutures

skeleton

clavicle hypoplasia ( J:90056 )

• notably, 10-day-old mice doubly heterozygotes for Runx2^tm1Mjo and Twist1^tm1Bhr continue to display the clavicle hypoplasia of Runx2^tm1Mjo heterozygotes

Allelic Composition	Twist1^tm1Bhr/Twist1⁺ Twist2^tm1(cre)Dor/Twist2⁺
Genetic Background	involves: 129/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Twist1^tm1Bhr mutation (4 available); any Twist1 mutation (18 available)
Twist2^tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:81485 )

• observed lethality is similar to that of Twist2^tm1(cre)Dor homozygotes

growth/size/body

cachexia ( J:81485 )

• postnatal wasting is similar to Twist2^tm1(cre)Dor homozygotes

muscle

abnormal skeletal muscle morphology ( J:81485 )

• in 2-day old animals, increase in apoptotic cells is observed; in older pups, myofiber breakdown is observed

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