All Phenotypes Ift88<tm1Rpw> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Ift88^tm1Rpw
targeted mutation 1, Richard P Woychik
MGI:1859153

Summary

6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ift88^tm1Rpw/Ift88^tm1Rpw	FVB.129-Ift88^tm1Rpw	MGI:2170803
hm2	Ift88^tm1Rpw/Ift88^tm1Rpw	involves: 129	MGI:3664431
ht3	Ift88^tm1Rpw/Ift88^tm1.1Bky	involves: 129 * 129P2/OlaHsd	MGI:3710955
ht4	Ift88^fxo/Ift88^tm1Rpw	involves: 129/Sv * C3HeB/FeJ * C57BL/6J	MGI:3027344
ht5	Ift88^Tg737Rpw/Ift88^tm1Rpw	involves: 129/Sv * FVB/N	MGI:3664430
cn6	Ift88^tm1Bky/Ift88^tm1Rpw Tg(Col1a1-cre)1Bek/0	involves: 129 * 129P2/OlaHsd * CD-1	MGI:7572557

Allelic Composition	Ift88^tm1Rpw/Ift88^tm1Rpw
Genetic Background	FVB.129-Ift88^tm1Rpw

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift88^tm1Rpw mutation (0 available); any Ift88 mutation (46 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:62025 )

• die between E10.5 and E11.5

embryo

absent embryonic cilia ( J:62025 )

• absent from the surface of ventral node cells

abnormal pharyngeal arch morphology ( J:62025 )

• poorly differentiated at E9.5

abnormal left-right axis patterning ( J:62025 )

• bilateral expression of Lefty2 and Nodal at E8.0

embryonic growth retardation ( J:62025 )

• slightly runted at E9.5

broad limb buds ( J:62025 )

kinked neural tube ( J:62025 )

• at E9.5

wavy neural tube ( J:62025 )

• undulations present at E9.5

cardiovascular system

abnormal direction of heart looping ( J:62025 )

• randomization of the direction of looping

distended pericardium ( J:62025 )

• at E9.5 and E10.5

limbs/digits/tail

broad limb buds ( J:62025 )

nervous system

kinked neural tube ( J:62025 )

• at E9.5

wavy neural tube ( J:62025 )

• undulations present at E9.5

abnormal forebrain development ( J:62025 )

• poorly differentiated at E9.5

abnormal hindbrain development ( J:62025 )

• poorly differentiated at E9.5

abnormal midbrain development ( J:62025 )

• poorly differentiated at E9.5

growth/size/body

embryonic growth retardation ( J:62025 )

• slightly runted at E9.5

craniofacial

abnormal pharyngeal arch morphology ( J:62025 )

• poorly differentiated at E9.5

cellular

absent embryonic cilia ( J:62025 )

• absent from the surface of ventral node cells

Allelic Composition	Ift88^tm1Rpw/Ift88^tm1Rpw
Genetic Background	involves: 129

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift88^tm1Rpw mutation (0 available); any Ift88 mutation (46 available)

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

limbs/digits/tail

abnormal limb bud morphology ( J:83305 )

• appear paddle-like with major expansion in both the anterior and posterior directions

polydactyly ( J:83305 )

• in the few embryos surviving past E11.5, 8 digits are present on each limb

embryo

abnormal limb bud morphology ( J:83305 )

• appear paddle-like with major expansion in both the anterior and posterior directions

Allelic Composition	Ift88^tm1Rpw/Ift88^tm1.1Bky
Genetic Background	involves: 129 * 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift88^tm1.1Bky mutation (0 available); any Ift88 mutation (46 available)
Ift88^tm1Rpw mutation (0 available); any Ift88 mutation (46 available)

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

nervous system

abnormal neural tube morphology ( J:117033 )

• at E11.5, the neural tube is misaligned

open neural tube ( J:117033 )

• at E11.5, the neural tube is not closed

cardiovascular system

distended pericardium ( J:117033 )

• at E11.5, the cardiac sac balloons

embryo

abnormal neural tube morphology ( J:117033 )

• at E11.5, the neural tube is misaligned

open neural tube ( J:117033 )

• at E11.5, the neural tube is not closed

Allelic Composition	Ift88^fxo/Ift88^tm1Rpw
Genetic Background	involves: 129/Sv * C3HeB/FeJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift88^fxo mutation (1 available); any Ift88 mutation (46 available)
Ift88^tm1Rpw mutation (0 available); any Ift88 mutation (46 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:86437 )

nervous system

abnormal floor plate morphology ( J:86437 )

• lack the ventral midline groove in the neural plate

abnormal cranial flexure morphology ( J:86437 )

• sharp angle to mesencephalic flexure at E9.5-E10.5

limbs/digits/tail

preaxial polydactyly ( J:86437 )

• preaxial polydactyly

embryo

embryonic growth arrest ( J:86437 )

• development is arrested at E12.5-E13.5

abnormal floor plate morphology ( J:86437 )

• lack the ventral midline groove in the neural plate

Allelic Composition	Ift88^Tg737Rpw/Ift88^tm1Rpw
Genetic Background	involves: 129/Sv * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift88^Tg737Rpw mutation (0 available); any Ift88 mutation (46 available)
Ift88^tm1Rpw mutation (0 available); any Ift88 mutation (46 available)

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

renal/urinary system

kidney cyst ( J:62025 )

• identical to phenotype in Ift88^Tg737Rpw homozygotes with proximal tubule dilations and collecting duct cysts

dilated proximal convoluted tubule ( J:62025 )

• dilation of the proximal tubules

endocrine/exocrine glands

pancreatic acinar cell atrophy ( J:62025 )

• acinar cell atrophy

abnormal pancreatic duct morphology ( J:62025 )

• identical to phenotype in Ift88^Tg737Rpw homozygotes

• ductal hyperplasia

abnormal bile duct morphology ( J:62025 )

• biliary and bile duct hyperplasia

limbs/digits/tail

preaxial polydactyly ( J:62025 )

• preaxial polydactyly of both the fore- and hindlimbs

liver/biliary system

abnormal bile duct morphology ( J:62025 )

• biliary and bile duct hyperplasia

abnormal liver morphology ( J:62025 )

• identical to phenotype in Ift88^Tg737Rpw homozygotes

digestive/alimentary system

pancreatic acinar cell atrophy ( J:62025 )

• acinar cell atrophy

abnormal pancreatic duct morphology ( J:62025 )

• identical to phenotype in Ift88^Tg737Rpw homozygotes

• ductal hyperplasia

growth/size/body

kidney cyst ( J:62025 )

• identical to phenotype in Ift88^Tg737Rpw homozygotes with proximal tubule dilations and collecting duct cysts

Allelic Composition	Ift88^tm1Bky/Ift88^tm1Rpw Tg(Col1a1-cre)1Bek/0
Genetic Background	involves: 129 * 129P2/OlaHsd * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift88^tm1Bky mutation (1 available); any Ift88 mutation (46 available)
Ift88^tm1Rpw mutation (0 available); any Ift88 mutation (46 available)
Tg(Col1a1-cre)1Bek mutation (1 available)

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

cardiovascular system

persistent truncus arteriosus ( J:308860 )

• in 1 embryo at E14.5-E15.5

abnormal dorsal mesocardium morphology ( J:308860 )

• at E9.5, appears wider and contains excessive extracellular matrix and mesenchyme

• the pulmonary pit is not well defined

double outlet right ventricle ( J:308860 )

• at E14.5-15.5

anomalous pulmonary venous connection ( J:308860 )

• in over 75% of E14.5 embryos the common pulmonary venous return is not properly positioned in the left atrium

• in 2 embryos the pulmonary venous orifice is found to the right of the rudimentary primary atrial septum in the posterior right atrial wall

• in 2 embryos the pulmonary vein connects to the junctional areal between the future right superior caval vein and the right atrium

• in 3 embryos the common pulmonary vein drains very low in the right atrium close to where the left sinus horn connects to the right atrium

atrioventricular septal defect ( J:308860 )

• characterized by a primary atrial septal defect as well as ventricular septal defect

complete atrioventricular septal defect ( J:308860 )

• in some embryos

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
scimitar syndrome		DOID:4297	OMIM:106700	J:308860

Contributing Projects: 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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