Phenotypes associated with this allele

• Allele Symbol: Ift172^tm1Lmgd
• Allele Name: targeted mutation 1, Laboratory of Mammalian Genes and Development, Heiner Westphal
• Allele ID: MGI:3829198
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ift172^tm1Lmgd/Ift172^tm1Lmgd	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3829199

Genotype
MGI:3829199

hm1

• Allelic Composition: Ift172^tm1Lmgd/Ift172^tm1Lmgd
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:143572 )

• die between E12.5 and E13.0

nervous system

abnormal embryonic neuroepithelium morphology ( J:143572 )

• axonemes of cilia are very short and lack visible microtubules

open neural tube ( J:143572 )

• fails to close at E9.5

abnormal brain development ( J:143572 )

• increase in cell death at E10.0

abnormal rhombomere morphology ( J:143572 )

• expression analysis suggests formation of rhombomere 1 is impaired

holoprosencephaly ( J:143572 )

• 87% penetrance

abnormal diencephalon morphology ( J:143572 )

• truncated

abnormal telencephalon morphology ( J:143572 )

• truncated

exencephaly ( J:143572 )

• present by E12.5

vision/eye

anophthalmia ( J:143572 )

• lack eyes

• however, at E9.5 the optic vesicle is present suggesting eye induction does occur

embryo

abnormal mesendoderm development ( J:143572 )

• expression analysis indicates a defect in anterior mesendoderm formation

abnormal left-right axis patterning ( J:143572 )

• randomized left right asymmetry

abnormal embryonic neuroepithelium morphology ( J:143572 )

• axonemes of cilia are very short and lack visible microtubules

open neural tube ( J:143572 )

• fails to close at E9.5

abnormal rhombomere morphology ( J:143572 )

• expression analysis suggests formation of rhombomere 1 is impaired

cardiovascular system

abnormal cardiac outflow tract development ( J:143572 )

• the outflow tract is markedly shorter compared to controls

abnormal direction of heart looping ( J:143572 )

• in 42% of mice looping is inverted

decreased heart right ventricle size ( J:143572 )

hemorrhage ( J:143572 )

homeostasis/metabolism

edema ( J:143572 )

• heart edema is typically seen

limbs/digits/tail

polydactyly ( J:143572 )

• seen in about 1/6 of embryos at E12.5