Phenotypes Associated with This Genotype

Genotype
MGI:3510104

• Allelic Composition: Dync2li1^tm1Aar/Dync2li1^tm1Aar
• Genetic Background: involves: 129P2/OlaHsd

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

mortality/aging

embryonic lethality, complete penetrance ( J:93573 )

• death before E11.5

cardiovascular system

abnormal direction of heart looping ( J:93573 )

• reversed heart looping showing variable penetrance

pericardial edema ( J:93573 )

embryo

abnormal motile primary cilium morphology ( J:93573 )

• disruption of cilium formation in the ventral node at E7.5

absent embryonic cilia ( J:93573 )

• absence of ventral node cell cilium in 4 of 12 mutant embryos

• lack of cilia in notochordal plate cells

decreased embryonic cilium length ( J:93573 )

• stunted cilium-like structures are found in the posterior region of the node in 8 of 12 mutant embryos

abnormal developmental patterning ( J:93573 )

failure of initiation of embryo turning ( J:93573 )

• 61% of mutants fail to initiate turning by E9.5

incomplete embryo turning ( J:93573 )

• 21% mutants start but do not complete embryonic turning at E9.5

abnormal left-right axis patterning ( J:93573 )

• absence of ventral node cell cilium and stunted cilium-like structures in 4/12 and 8/12 mutants, respectively

• lack of cilia in notochordal plate cells

• flatter ventral node and notocordal plate cells than in wild-type

abnormal anterior definitive endoderm morphology ( J:93573 )

• greatly reduced anterior definitive endoderm

• extensive apoptotic cell death in the anterior definitive endoderm

abnormal notochordal plate morphology ( J:93573 )

• lack of cilia in notochordal plate cells

abnormal head mesenchyme morphology ( J:93573 )

• ectopic cell death in the cephalic mesenchyme

abnormal neural tube morphology ( J:93573 )

abnormal floor plate morphology ( J:93573 )

open neural tube ( J:93573 )

• neural tube closure defects with variable penetrance

abnormal notochord morphology ( J:93573 )

• variable penetrance at E9.5

homeostasis/metabolism

pericardial edema ( J:93573 )

limbs/digits/tail

abnormal tail development ( J:93573 )

nervous system

abnormal neural tube morphology ( J:93573 )

abnormal floor plate morphology ( J:93573 )

open neural tube ( J:93573 )

• neural tube closure defects with variable penetrance

abnormal hindbrain development ( J:93573 )

• reduced levels of cell death in the hindbrain compared to wild-type during neural tube closure

decreased forebrain size ( J:93573 )

• anterior truncation of the forebrain

cellular

abnormal motile primary cilium morphology ( J:93573 )

• disruption of cilium formation in the ventral node at E7.5

absent embryonic cilia ( J:93573 )

• absence of ventral node cell cilium in 4 of 12 mutant embryos

• lack of cilia in notochordal plate cells

decreased embryonic cilium length ( J:93573 )

• stunted cilium-like structures are found in the posterior region of the node in 8 of 12 mutant embryos

growth/size/body

abnormal head mesenchyme morphology ( J:93573 )

• ectopic cell death in the cephalic mesenchyme