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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ift57tm1Dwni
targeted mutation 1, Donald W Nicholson
MGI:3707373
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ift57tm1Dwni/Ift57tm1Dwni involves: 129S1/SvImJ * C57BL/6J MGI:3707689


Genotype
MGI:3707689
hm1
Allelic
Composition
Ift57tm1Dwni/Ift57tm1Dwni
Genetic
Background
involves: 129S1/SvImJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift57tm1Dwni mutation (0 available); any Ift57 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most embryos die between E9.5 and E10.5 however, Mendelian ratios are found at E9.5 embryonic lethality during organogenesis [MP:0006207] most embryos die between E9.5 and E10.5 however, Mendelian ratios are found at E9.5

embryo
• at E8.0, monocilia are absent from the node
• however, node gross morphology is normal
• embryonic turning is random with 11 of 40 embryos turning leftwards, 11 of 40 turning rightwards and the remaining 18 so severely distorted that turning direction could not be assessed
• variable severity of delay present at E9.5
• in severe cases, mice fail to initiate turning by E9.5
• as shown by bilateral expression of left markers, left-right axis patterning is disrupted
• at E9.5 embryonic growth is retarded
• ventral cell specification of the neural tube is lost
• expression analysis at E9.5 indicates absence of the floor plate
• at E9.5 mice have an opened brain
• at E9.5 brain closure and neural tube closure are variable but never complete

nervous system
• ventral cell specification of the neural tube is lost
• expression analysis at E9.5 indicates absence of the floor plate
• at E9.5 mice have an opened brain
• at E9.5 brain closure and neural tube closure are variable but never complete
• at E9.5 there is often an abnormal curvature of the floor of the cranial flexure
• at E13.5 in a single surviving embryo the region above the presumed midbrain is open
• at E9.5 the spinal cord has kinks and displays uneven closure

cardiovascular system
• cardiac looping sidedness is sometimes inverted
• pericardial edema of varying sizes is observed

limbs/digits/tail
• at E13.5 in a single surviving embryo, both the fore- and hindlimbs exhibit polydactyly

craniofacial
• at E13.5 in a single surviving embryo the maxillary processes fail to fuse and are reduced in length

growth/size/body
• at E9.5 embryonic growth is retarded

vision/eye
• at E13.5 in a single surviving embryo

skeleton
• at E13.5 in a single surviving embryo the maxillary processes fail to fuse and are reduced in length

homeostasis/metabolism
• pericardial edema of varying sizes is observed

cellular
• at E8.0, monocilia are absent from the node
• however, node gross morphology is normal





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory