Phenotypes associated with this allele

• Allele Symbol: Asxl1^tm1.2Iaai
• Allele Name: targeted mutation 1.2, Iannis Aifantis
• Allele ID: MGI:5575657
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Asxl1^tm1.2Iaai/Asxl1^tm1.2Iaai	involves: 129S/SvEv * C57BL/6	MGI:5575659
ht2	Asxl1^tm1.2Iaai/Asxl1^+	involves: 129S/SvEv * C57BL/6	MGI:5575660

Genotype
MGI:5575659

hm1

• Allelic Composition: Asxl1^tm1.2Iaai/Asxl1^tm1.2Iaai
• Genetic Background: involves: 129S/SvEv * C57BL/6

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:208092 )

• fewer than the expected numbers are seen at E18.5 and 100% lethality is seen by E19.5, with no live births

craniofacial

abnormal hyoid bone morphology ( J:208092 )

• loss of hyoid bone formation in some mice

mandible hypoplasia ( J:208092 )

• in some mice

cleft palate ( J:208092 )

• 5 of 12 homozygotes show cleft palate

digestive/alimentary system

cleft palate ( J:208092 )

• 5 of 12 homozygotes show cleft palate

growth/size/body

cleft palate ( J:208092 )

• 5 of 12 homozygotes show cleft palate

skeleton

abnormal skeleton morphology ( J:208092 )

• 4 of 12 homozygotes show multiple skeletal abnormalities including mandibular hypoplasia, loss of hyoid bone formation, and posterior homeotic transformations

abnormal hyoid bone morphology ( J:208092 )

• loss of hyoid bone formation in some mice

mandible hypoplasia ( J:208092 )

• in some mice

vertebral transformation ( J:208092 )

• posterior homeotic transformations in some mice

vision/eye

microphthalmia ( J:208092 )

• microphthalmia/anophthalmia in 12 of 12 homozygotes

anophthalmia ( J:208092 )

• microphthalmia/anophthalmia in 12 of 12 homozygotes

Genotype
MGI:5575660

ht2

• Allelic Composition: Asxl1^tm1.2Iaai/Asxl1⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6

craniofacial

abnormal craniofacial morphology ( J:208092 )

• 35% of adult mice show craniofacial dysmorphism