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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ift88cbbs
cobblestone
MGI:3823090
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ift88cbbs/Ift88cbbs B6.Cg-Mapttm1(EGFP)Klt Ift88cbbs MGI:3823201
ht2
Ift88cbbs/Ift88tm1.1Bky involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 MGI:3823202


Genotype
MGI:3823201
hm1
Allelic
Composition
Ift88cbbs/Ift88cbbs
Genetic
Background
B6.Cg-Mapttm1(EGFP)Klt Ift88cbbs
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift88cbbs mutation (0 available); any Ift88 mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

nervous system
N
• unlike in mice homozygous for other Ift88 alleles, midbrain and telencephalon cilia are normal
• at E12.5, mice exhibit EGFP+ bulges in the pial surface of the forebrain unlike in wild-type mice
• at E12.5, mice exhibit disorganization of the dorsal telecephalon such that the hippocampal primordium and cortical hem can not be identified
• however, cell types are specified normally and cilia in the telencechaplon appear normal
• at E11.5, the telencephalon is shortened along its rostral-caudal axis compared to in wild-type mice
• at E11.5, the dorsal midline exhibits reduced invagination and disorganization, invaginations of the cortical ventricular zone and subpial heterotopias
• at E12.5, the ventricular zone is kinked and folded upon itself unlike in wild-type mice
• however, development of the medial and lateral ganglionic eminences and the number of mitotic cells in the ventricular zone cortex or located greater than 30 um basally from the ventricular zone cortex and ganglionic eminences are normal
• at E11.5 and E12.5, ganglionic eminences exhibit an increase in mitotic cells compared to in wild-type mice
• at the caudal level the separation between the diencephalons and dorsal telencephalon is lost
• numerous rosettes are detected in the dorsal telencephalic-diencephalic boundary region that contain mixture of ventricular, eminentia thalami and telencephalic cells
• in 10% of mice at E12.5

cardiovascular system
• mice exhibit pulmonary artery atresia
• between E12.5 and E16.5 mice exhibit numerous cardiovascular development defects including arteria lusoria, interventricular and interatrial septal defects, dextrotransposition of the common truncus arteriosus, and persistent truncus arteriosus
• instead of emptying into the right atrium, the coronary sinus emptied into the common atrium
• abnormal drainage of the right pulmonary vein into the inferior vena cava was observed
• common atrium

respiratory system
N
• unlike in mice homozygous for other Ift88 alleles, bronchial cilia are normal
• between E12.5 and E16.5
• mice exhibit severe lung hypoplasia with minor arborization of the bronchial tree and left lung aplasia

vision/eye
• bilaterally in all mice

limbs/digits/tail
• in all mice in both fore- and hindlimbs




Genotype
MGI:3823202
ht2
Allelic
Composition
Ift88cbbs/Ift88tm1.1Bky
Genetic
Background
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift88cbbs mutation (0 available); any Ift88 mutation (48 available)
Ift88tm1.1Bky mutation (0 available); any Ift88 mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• enlarged midbrain
• at E11.5, the telencephalon is shortened along its rostral-caudal axis compared to in wild-type mice
• at E11.5, the dorsal telencephalic midline is barely invaginated, the cortical ventricular zone is reduced to a thin strip, and the medial and lateral ganglionic eminences are reduced in size

cardiovascular system
• 3 of 7 mice exhibit a rightward-looping heart tube

vision/eye
• bilaterally in all mice





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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory