Phenotypes associated with this allele

• Allele Symbol: Axin2^tm1Wbm
• Allele Name: targeted mutation 1, Walter Birchmeier
• Allele ID: MGI:3579503
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Axin2^tm1Wbm/Axin2^tm1Wbm	involves: 129P2/OlaHsd * C57BL/6	MGI:3580015
ht2	Axin2^canp/Axin2^tm1Wbm	involves: 129P2/OlaHsd * C3H * C57BL/6J	MGI:5006984
cx3	Axin2^tm1Wbm/Axin2^+ Tg(Wt1-Sox9)92Asc/?	involves: 129 * C57BL/6	MGI:3795285
cx4	Axin2^tm1Wbm/Axin2^tm1Wbm Crb1^rd8/?	involves: 129P2/OlaHsd * C57BL/6	MGI:6379321

Genotype
MGI:3580015

hm1

• Allelic Composition: Axin2^tm1Wbm/Axin2^tm1Wbm
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

cellular

enhanced osteoblast differentiation ( J:98523 )

• enhanced osteoblast differentiation predominantly in the anterior calvarium

abnormal osteoblast physiology ( J:98523 )

• primary calvarial osteoblasts isolated from nasal/frontal bones exhibited enhanced formation of mineralized nodules when induced to differentiate

increased osteoblast proliferation ( J:98523 )

• enhanced proliferation of osteoblast precursors in the developing metopic suture and of isolated primary osteoblasts from nasal/frontal bones (cranial neural crest derived) but not from parietal bones (mesoderm-derived)

craniofacial

abnormal cranium morphology ( J:98523 )

• adult skulls became abnormally structured and shaped due to premature suture closure

absent jugum limitans ( J:98523 )

• the jugum limitans is often missing

decreased cranium height ( J:98523 )

abnormal neurocranium morphology ( J:98523 )

• enhanced osteoblast differentiation predominantly in the anterior calvarium

shortened head ( J:98523 )

• reduced growth of the head, obvious within 3 weeks after birth

skeleton

abnormal osteoblast physiology ( J:98523 )

• primary calvarial osteoblasts isolated from nasal/frontal bones exhibited enhanced formation of mineralized nodules when induced to differentiate

increased osteoblast proliferation ( J:98523 )

• enhanced proliferation of osteoblast precursors in the developing metopic suture and of isolated primary osteoblasts from nasal/frontal bones (cranial neural crest derived) but not from parietal bones (mesoderm-derived)

abnormal cranium morphology ( J:98523 )

• adult skulls became abnormally structured and shaped due to premature suture closure

absent jugum limitans ( J:98523 )

• the jugum limitans is often missing

decreased cranium height ( J:98523 )

abnormal neurocranium morphology ( J:98523 )

• enhanced osteoblast differentiation predominantly in the anterior calvarium

abnormal skeleton development ( J:98523 )

• accelerated skeletogenesis

enhanced osteoblast differentiation ( J:98523 )

• enhanced osteoblast differentiation predominantly in the anterior calvarium

premature intramembranous bone ossification ( J:98523 )

• in the skull

premature metopic suture closure ( J:98523 )

• premature closure of the metopic suture, with the suture remaining patent at birth but fused by P8

vision/eye

abnormal eye morphology ( J:98523 )

• requently exhibited eye abnormalities

growth/size/body

shortened head ( J:98523 )

• reduced growth of the head, obvious within 3 weeks after birth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
craniosynostosis		DOID:2340	OMIM:123100 OMIM:182212 OMIM:600593 OMIM:600775 OMIM:604757 OMIM:615314	J:98523

Genotype
MGI:5006984

ht2

• Allelic Composition: Axin2^canp/Axin2^tm1Wbm
• Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6J

normal phenotype

no abnormal phenotype detected ( J:171894 )

• viable, fertile and do no exhibit the abnormal skull phenotype seen in homozygous null mice

Genotype
MGI:3795285

cx3

• Allelic Composition: Axin2^tm1Wbm/Axin2⁺; Tg(Wt1-Sox9)92Asc/?
• Genetic Background: involves: 129 * C57BL/6

reproductive system

abnormal sex gland morphology ( J:133933 )

• XX gonads that normally stain blue with the Axin2^tm1Jbeh allele fail to stain in the presence of the transgene

endocrine/exocrine glands

abnormal sex gland morphology ( J:133933 )

• XX gonads that normally stain blue with the Axin2^tm1Jbeh allele fail to stain in the presence of the transgene

Genotype
MGI:6379321

cx4

• Allelic Composition: Axin2^tm1Wbm/Axin2^tm1Wbm; Crb1^rd8/?
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

vision/eye

small lens ( J:254591 )

• in 3 of 4 mice

abnormal optic cup morphology ( J:254591 )

• ectopic expansion of the optic cup periphery that acquires a peripheral retina fate as determined by marker staining

coloboma ( J:254591 )

• failure of the optic fissure to close

• however, mice exhibit normal retina lamination and apicobasal polarity of the basement membrane