Phenotypes associated with this allele

• Allele Symbol: Ift88^tm1Bky
• Allele Name: targeted mutation 1, Bradley K Yoder
• Allele ID: MGI:3710185
• Summary: 9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Ift88^tm1Bky/Ift88^tm1.1Bky	involves: 129P2/OlaHsd	MGI:3710954
cn2	Ift88^tm1Bky/Ift88^tm1Bky Tg(Col1a1-cre)1Bek/0	involves: 129 * 129P2/OlaHsd * CD-1	MGI:7572558
cn3	Ift88^tm1Bky/Ift88^tm1Rpw Tg(Col1a1-cre)1Bek/0	involves: 129 * 129P2/OlaHsd * CD-1	MGI:7572557
cn4	Ift88^tm1Bky/Ift88^tm1Bky Shh^tm1(EGFP/cre)Cjt/Shh^+	involves: 129P2/OlaHsd	MGI:6378813
cn5	Ift88^tm1Bky/Ift88^tm1Bky Nfatc1^tm1.1(cre)Bz/Nfatc1^+	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ	MGI:6718510
cn6	Omp^tm4(cre)Mom/Omp^+ Gucy1b2^tm3Mom Ift88^tm1Bky/Gucy1b2^tm3Mom Ift88^tm1Bky	involves: 129P2/OlaHsd * C57BL/6J	MGI:6725130
cn7	Ift88^tm1Bky/Ift88^tm1.1Bky Tg(Prrx1-cre)1Cjt/?	involves: 129P2/OlaHsd * C57BL/6J * SJL/J	MGI:3710956
cn8	Ift88^tm1Bky/Ift88^tm1Bky Tg(Col2a1-cre)1Bhr/?	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:3710958
cx9	Ankmy2^tm1b(EUCOMM)Hmgu/Ankmy2^tm1b(EUCOMM)Hmgu Ift88^tm1Bky/Ift88^tm1Bky	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N	MGI:6489572

Genotype
MGI:3710954

cn1

• Allelic Composition: Ift88^tm1Bky/Ift88^tm1.1Bky
• Genetic Background: involves: 129P2/OlaHsd

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

limbs/digits/tail

abnormal limb bud morphology ( J:117033 )

• at E11.5, the ventral (but not the dorsal) ectoderm of the limb bud is nearly devoid of cilia

• however, normal limbs form

embryo

abnormal limb bud morphology ( J:117033 )

• at E11.5, the ventral (but not the dorsal) ectoderm of the limb bud is nearly devoid of cilia

• however, normal limbs form

Genotype
MGI:7572558

cn2

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

cardiovascular system

double outlet right ventricle ( J:308860 )

• at E14.5-15.5

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

Genotype
MGI:7572557

cn3

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

cardiovascular system

persistent truncus arteriosus ( J:308860 )

• in 1 embryo at E14.5-E15.5

abnormal dorsal mesocardium morphology ( J:308860 )

• the pulmonary pit is not well defined

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

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

Genotype
MGI:6378813

cn4

• Allelic Composition: Ift88^tm1Bky/Ift88^tm1Bky; Shh^{tm1(EGFP/cre)Cjt}/Shh⁺
• Genetic Background: involves: 129P2/OlaHsd

craniofacial

abnormal palatal rugae morphology ( J:281425 )

• variable penetrance of highly disorganized palatal rugae. including waved, folded, supernumerary, absence, shortened and fragmented palatal rugae, observed in the intermolar rugae

• no obvious anomalies were found in the antemolar rugae

digestive/alimentary system

abnormal palatal rugae morphology ( J:281425 )

• variable penetrance of highly disorganized palatal rugae. including waved, folded, supernumerary, absence, shortened and fragmented palatal rugae, observed in the intermolar rugae

• no obvious anomalies were found in the antemolar rugae

growth/size/body

abnormal palatal rugae morphology ( J:281425 )

• variable penetrance of highly disorganized palatal rugae. including waved, folded, supernumerary, absence, shortened and fragmented palatal rugae, observed in the intermolar rugae

• no obvious anomalies were found in the antemolar rugae

Genotype
MGI:6718510

cn5

• Allelic Composition: Ift88^tm1Bky/Ift88^tm1Bky; Nfatc1^tm1.1(cre)Bz/Nfatc1⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

cardiovascular system

abnormal mitral valve morphology ( J:291454 )

• failure of ciliogenesis with lack of axonemes in valve mesenchyme

• adult mice exhibit myxomatous mitral valve disease with loss of normal extracellular matrix distribution

abnormal mitral valve cusp morphology ( J:291454 )

• enlarged at P0

• however, mice exhibit normal proliferation and total number of valve progenitor cells

cellular

abnormal motile cilium morphology ( J:291454 )

• failure of ciliogenesis with lack of axonemes in valve mesenchyme

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mitral valve disease		DOID:61		J:291454

Genotype
MGI:6725130

cn6

• Allelic Composition: Omp^tm4(cre)Mom/Omp⁺; Gucy1b2^tm3Mom Ift88^tm1Bky/Gucy1b2^tm3Mom Ift88^tm1Bky
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

behavior/neurological

abnormal response to novel odor ( J:307157 )

• with IFT88 absent from type B olfactory sensory neurons, homozygotes fail to respond to NaHS by the usual dose-dependent avoidance behavior or the increased stress-induced self-grooming that occurs that occurs in controls, but respond with normal avoidance and increased self-grooming to hypoxia

homeostasis/metabolism

abnormal homeostasis ( J:307157 )

• Type B olfactory sensory neurons of the main olfactory epithelium respond normally to hypoxia but fail to respond to NaHS

Genotype
MGI:3710956

cn7

• Allelic Composition: Ift88^tm1Bky/Ift88^tm1.1Bky; Tg(Prrx1-cre)1Cjt/?
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * SJL/J

skeleton

decreased length of long bones ( J:117033 )

• at E18.5, mice display varying severities of endochondral bone defects in all long bones with dramatic reduction in overall length

abnormal osteoblast morphology ( J:117033 )

• mice lack expression of an osteoblast-specific marker (alkaline phosphates) in the perichondrium

• cells adjacent to the perichondrium resemble chondrocytes rather than osteoblast

abnormal chondrocyte morphology ( J:117033 )

• at E18.5, proliferating chondrocytes in the growth region of the tibia are round and flat

• at E18.5, only small cilia are occasionally observed on chondrocytes of the developing tibia

• at E18.5, ectopic chondrocytes are seen in the perichondrium

abnormal perichondrium morphology ( J:117033 )

• at E18.5, perichondrial cells are disorganized, do not adopt the characteristic flattened morphology and are not evenly distributed along the bone

• at E18.5, bone collar formation is absent in the tibia

• at E18.5, some cells in the perichondrium appear to be differentiating into chondrocytes rather than into osteoblasts

abnormal skeleton development ( J:117033 )

• at E18.5, bone vascularization is delayed and hypertrophic cells persist

decreased long bone epiphyseal plate size ( J:117033 )

• at E18.5, the growth region of the tibia contains only a small disorganized area of round and flat proliferating chondrocytes

disorganized long bone epiphyseal plate ( J:117033 )

• at E18.5, the growth region of the tibia contains only a small disorganized area of round and flat proliferating chondrocytes

abnormal bone mineralization ( J:117033 )

• only some regions of the tibia contain mineralized bone

limbs/digits/tail

abnormal limb bud morphology ( J:117033 )

• at E11.5, very few cells with cilia are present in the limb mesenchyme

• however, cilia of the overlying ectoderm is normal

polydactyly ( J:117033 )

• at E18.5, mice have 8 or more non-patterned digits on their forelimbs while each hindlimb has a single extra preaxial digit (typically a duplication of digit 1)

short limbs ( J:117033 )

• at E13.5 and P11, all four limbs are shortened in the proximodistal axis

• however, limb patterning is normal

growth/size/body

decreased body size ( J:117033 )

• mice are smaller postnatally

embryo

abnormal limb bud morphology ( J:117033 )

• at E11.5, very few cells with cilia are present in the limb mesenchyme

• however, cilia of the overlying ectoderm is normal

Genotype
MGI:3710958

cn8

• Allelic Composition: Ift88^tm1Bky/Ift88^tm1Bky; Tg(Col2a1-cre)1Bhr/?
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

growth/size/body

disproportionate dwarf ( J:121342 )

• at P30 dawrfism is observed

• however, at P0 mice appear normal

skeleton

abnormal long bone epiphyseal plate morphology ( J:121342 )

• at P15, growth plate structure is completely abrogated with ossification centers merged and the distance from the articular surface to the trabecular bone is reduced

Genotype
MGI:6489572

cx9

• Allelic Composition: Ankmy2^{tm1b(EUCOMM)Hmgu}/Ankmy2^{tm1b(EUCOMM)Hmgu}; Ift88^tm1Bky/Ift88^tm1Bky
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

cardiovascular system

abnormal heart looping ( J:297055 )

pericardial effusion ( J:297055 )

cellular

absent embryonic cilia ( J:297055 )

embryo

embryo phenotype ( J:297055 )

N • normal neural tube closure at 14-16 somite stage

absent embryonic cilia ( J:297055 )

homeostasis/metabolism

pericardial effusion ( J:297055 )

mortality/aging

embryonic lethality prior to organogenesis ( J:297055 )

• embryos are arrested at stage E9.5