Phenotypes associated with this allele

• Allele Symbol: Kif3a^tm2Gsn
• Allele Name: targeted mutation 2, Lawrence SB Goldstein
• Allele ID: MGI:2386464
• Summary: 9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Kif3a^tm1Gsn/Kif3a^tm2Gsn	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J	MGI:3710952
cn2	Kif3a^tm1Gsn/Kif3a^tm2Gsn Tg(Msx2-cre)5Rem/?	involves: 129S1/Sv * 129X1/SvJ	MGI:3710951
cn3	Kif3a^tm2Gsn/Kif3a^tm2Gsn Tg(Col2a1-cre)10Amc/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5438954
cn4	Kif3a^tm2Gsn/Kif3a^tm2Gsn Tg(NEUROG3-cre)1Herr/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:6887596
cn5	Kif3a^tm2Gsn/Kif3a^tm2Gsn Tg(Rbp3-cre)528Jxm/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:6384883
cn6	Kif3a^tm1Gsn/Kif3a^tm2Gsn Tg(FOXJ1-cre/ERT2)1Blh/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA	MGI:5285557
cn7	Kif3a^tm1Gsn/Kif3a^tm2Gsn Tg(Cdh16-cre)91Igr/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * ICR	MGI:5142310
cn8	Kif3a^tm2Gsn/Kif3a^tm2Gsn H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J	MGI:4443124
cn9	Kif3a^tm2Gsn/Kif3a^tm2Gsn Tg(Col2a1-cre)1Bhr/?	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3710959

Genotype
MGI:3710952

cn1

• Allelic Composition: Kif3a^tm1Gsn/Kif3a^tm2Gsn
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

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

limbs/digits/tail

polydactyly ( J:117033 )

• results are identical to those seen in Ift88^tm1.1Bky/ Ift88^tm1Bky Tg(Prrx1-cre)1Cjt mice

short limbs ( J:117033 )

skeleton

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

decreased length of long bones ( J:117033 )

• dramatic reduction in the length of the skeletal elements

growth/size/body

decreased body size ( J:117033 )

• results are identical to those seen in Ift88^tm1.1Bky/ Ift88^tm1Bky Tg(Prrx1-cre)1Cjt mice

Genotype
MGI:3710951

cn2

• Allelic Composition: Kif3a^tm1Gsn/Kif3a^tm2Gsn; Tg(Msx2-cre)5Rem/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

limbs/digits/tail

abnormal limb bud morphology ( J:117033 )

• results are identical to those seen in Ift88^tm1.1Bky/ Ift88^tm1Bky Tg(Msx2-cre)5Rem mice

embryo

abnormal limb bud morphology ( J:117033 )

• results are identical to those seen in Ift88^tm1.1Bky/ Ift88^tm1Bky Tg(Msx2-cre)5Rem mice

Genotype
MGI:5438954

cn3

• Allelic Composition: Kif3a^tm2Gsn/Kif3a^tm2Gsn; Tg(Col2a1-cre)10Amc/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

growth/size/body

polycystic kidney ( J:140779 )

• all mice develop early postnatal polycystic kidney disease, as revealed at autopsy (P24)

disproportionate dwarf ( J:140779 )

• mice develop a severe form of dwarfism and have to be euthanized upon weaning

skeleton

abnormal basicranium morphology ( J:140779 )

• mice exhibit early postnatal obliteration of cranial base synchondroses

disorganized long bone epiphyseal plate ( J:140779 )

• mice exhibit highly disorganized growth plates in the long bones

abnormal endochondral bone ossification ( J:140779 )

• mice exhibit premature obliteration of growth plates at the sites of endochondral ossification

craniofacial

abnormal basicranium morphology ( J:140779 )

• mice exhibit early postnatal obliteration of cranial base synchondroses

renal/urinary system

polycystic kidney ( J:140779 )

• all mice develop early postnatal polycystic kidney disease, as revealed at autopsy (P24)

Genotype
MGI:6887596

cn4

• Allelic Composition: Kif3a^tm2Gsn/Kif3a^tm2Gsn; Tg(NEUROG3-cre)1Herr/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

reproductive system

decreased testis weight ( J:210780 )

♂ • testis weight is slightly decreased

abnormal spermatogenesis ( J:210780 )

♂ • in stages XI and XII, elongating spermatids display abnormal head shapes and lack of visible tails

♂ • however, spermatogonia, spermatocytes and round spermatids appear normal

abnormal sperm flagellum morphology ( J:210780 )

♂ • the few mature spermatozoa collected from the cauda epididymis show abnormal tail morphology

♂ • overall structure of cauda epididymal sperm is severely disorganized and no correct axonemal or accessory structures are found

abnormal outer dense fiber morphology ( J:210780 )

♂ • elongating spermatids show displacement of the outer dense fibers (ODFs)

abnormal sperm axoneme morphology ( J:210780 )

♂ • elongating spermatids lack a normal axonemal structure and show displacement of the microtubules

♂ • in mature sperm, the axonemal acetylated alpha-tubulin is concentrated in the excess of cytoplasm

disorganized sperm mitochondrial sheath ( J:210780 )

♂ • elongating spermatids show a disorganized mitochondrial sheath with displacement of the mitochondria

abnormal sperm fibrous sheath morphology ( J:210780 )

♂ • in mature sperm, the fibrous sheath component AKAP4 is concentrated in the excess of cytoplasm

oligozoospermia ( J:210780 )

♂ • only a few mature spermatozoa are recovered from the cauda epididymis

abnormal sperm head morphology ( J:210780 )

♂ • the few mature spermatozoa collected from the cauda epididymis show abnormal head morphology

abnormal sperm nucleus morphology ( J:210780 )

♂ • step 13 spermatids show defects in chromatin condensation

abnormal spermatid morphology ( J:210780 )

♂ • steps 9-16 elongating spermatids show absence of normal sperm tail formation and malformed, knob-like, elongated head shapes

♂ • elongating spermatids lack a normal axonemal structure and show displacement of the microtubules, outer dense fibers (ODFs), fibrous sheath and mitochondria

♂ • step 13 spermatids show defects in chromatin condensation

abnormal manchette morphology ( J:210780 )

♂ • starting at step 11, elongating spermatids exhibit an abnormally elongated manchette and a nuclear constriction is observed at the juncture of the groove and perinuclear ring

♂ • during steps 11-12, MNS1 (meiosis-specific nuclear structural protein 1), a KIF3A-interacting protein, is abnormally concentrated in the manchette

abnormal manchette disassembly ( J:210780 )

♂ • in stages I-II, the manchette is abnormally retained, indicating a delay in manchette clearance

abnormal manchette perinuclear ring morphology ( J:210780 )

♂ • early elongating spermatids (steps 9-11) often show an perinuclear ring that is detached from the nucleus

ectopic manchette ( J:210780 )

♂ • early elongating spermatids (steps 9-11) often show an ectopically placed and thicker manchette while the perinuclear ring is detached from the nucleus

elongated manchette ( J:210780 )

♂ • starting at step 11, elongating spermatids exhibit an abnormally elongated manchette

abnormal epididymis morphology ( J:210780 )

♂ • epididymis is filled with cell debris

abnormal cauda epididymis morphology ( J:210780 )

♂ • cauda epididymis is almost completely devoid of spermatozoa

decreased epididymis weight ( J:210780 )

♂ • epididymis weight is slightly decreased

male infertility ( J:210780 )

♂ • adult males failed to produce progeny after 6 weeks of breeding with wild-type females

♂ • however, vaginal plugs are detected in paired females

cellular

abnormal sperm flagellum morphology ( J:210780 )

♂ • the few mature spermatozoa collected from the cauda epididymis show abnormal tail morphology

♂ • overall structure of cauda epididymal sperm is severely disorganized and no correct axonemal or accessory structures are found

abnormal outer dense fiber morphology ( J:210780 )

♂ • elongating spermatids show displacement of the outer dense fibers (ODFs)

abnormal sperm axoneme morphology ( J:210780 )

♂ • elongating spermatids lack a normal axonemal structure and show displacement of the microtubules

♂ • in mature sperm, the axonemal acetylated alpha-tubulin is concentrated in the excess of cytoplasm

disorganized sperm mitochondrial sheath ( J:210780 )

♂ • elongating spermatids show a disorganized mitochondrial sheath with displacement of the mitochondria

abnormal sperm fibrous sheath morphology ( J:210780 )

♂ • in mature sperm, the fibrous sheath component AKAP4 is concentrated in the excess of cytoplasm

oligozoospermia ( J:210780 )

♂ • only a few mature spermatozoa are recovered from the cauda epididymis

abnormal sperm head morphology ( J:210780 )

♂ • the few mature spermatozoa collected from the cauda epididymis show abnormal head morphology

abnormal sperm nucleus morphology ( J:210780 )

♂ • step 13 spermatids show defects in chromatin condensation

abnormal spermatid morphology ( J:210780 )

♂ • steps 9-16 elongating spermatids show absence of normal sperm tail formation and malformed, knob-like, elongated head shapes

♂ • elongating spermatids lack a normal axonemal structure and show displacement of the microtubules, outer dense fibers (ODFs), fibrous sheath and mitochondria

♂ • step 13 spermatids show defects in chromatin condensation

abnormal manchette morphology ( J:210780 )

♂ • starting at step 11, elongating spermatids exhibit an abnormally elongated manchette and a nuclear constriction is observed at the juncture of the groove and perinuclear ring

♂ • during steps 11-12, MNS1 (meiosis-specific nuclear structural protein 1), a KIF3A-interacting protein, is abnormally concentrated in the manchette

abnormal manchette disassembly ( J:210780 )

♂ • in stages I-II, the manchette is abnormally retained, indicating a delay in manchette clearance

abnormal manchette perinuclear ring morphology ( J:210780 )

♂ • early elongating spermatids (steps 9-11) often show an perinuclear ring that is detached from the nucleus

ectopic manchette ( J:210780 )

♂ • early elongating spermatids (steps 9-11) often show an ectopically placed and thicker manchette while the perinuclear ring is detached from the nucleus

elongated manchette ( J:210780 )

♂ • starting at step 11, elongating spermatids exhibit an abnormally elongated manchette

endocrine/exocrine glands

decreased testis weight ( J:210780 )

♂ • testis weight is slightly decreased

Genotype
MGI:6384883

cn5

• Allelic Composition: Kif3a^tm2Gsn/Kif3a^tm2Gsn; Tg(Rbp3-cre)528Jxm/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

vision/eye

abnormal photoreceptor inner segment morphology ( J:63427 )

• accumulation of vesicular and proteinaceous material is seen in the inner segment of 21 to 28 day old mice; this accumulation of material is not seen is mice older than 4 weeks of age

• accumulation of opsin (and some arrestin) within the cytoplasm of the inner segment is first seen at 21-24 days of age indicating that opsin mislocalization precedes photoreceptor death

• while opsin intracellular transport is impaired, distribution of other integral membrane proteins is normally localized to the outer segment

• no structural defect in the connecting cilium is seen

short photoreceptor inner segment ( J:63427 )

short photoreceptor outer segment ( J:63427 )

retina photoreceptor degeneration ( J:63427 )

• 10 week old mice show a range from no detectable reduction to loss of 80% of photoreceptors, indicating variable severity of photoreceptor degeneration

• many photoreceptor cells degenerate to opsin-containing fragments and opsin becomes aberrantly localized to the plasma membrane at late stages of photoreceptor degeneration

• photoreceptor degeneration is due to apoptotic photoreceptor cell death

• however, no cell loss is seen in 2 week old mice and no differences in the retinal ganglion or inner nuclear cell layers is seen

nervous system

abnormal photoreceptor inner segment morphology ( J:63427 )

• accumulation of vesicular and proteinaceous material is seen in the inner segment of 21 to 28 day old mice; this accumulation of material is not seen is mice older than 4 weeks of age

• accumulation of opsin (and some arrestin) within the cytoplasm of the inner segment is first seen at 21-24 days of age indicating that opsin mislocalization precedes photoreceptor death

• while opsin intracellular transport is impaired, distribution of other integral membrane proteins is normally localized to the outer segment

• no structural defect in the connecting cilium is seen

short photoreceptor inner segment ( J:63427 )

short photoreceptor outer segment ( J:63427 )

retina photoreceptor degeneration ( J:63427 )

• 10 week old mice show a range from no detectable reduction to loss of 80% of photoreceptors, indicating variable severity of photoreceptor degeneration

• many photoreceptor cells degenerate to opsin-containing fragments and opsin becomes aberrantly localized to the plasma membrane at late stages of photoreceptor degeneration

• photoreceptor degeneration is due to apoptotic photoreceptor cell death

• however, no cell loss is seen in 2 week old mice and no differences in the retinal ganglion or inner nuclear cell layers is seen

Genotype
MGI:5285557

cn6

• Allelic Composition: Kif3a^tm1Gsn/Kif3a^tm2Gsn; Tg(FOXJ1-cre/ERT2)1Blh/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA

nervous system

abnormal brain morphology ( J:174694 )

• tamoxifen-treated mice lack multiciliated maturing ependymal cells unlike in wild-type mice

• however, monociliated cells are observed

Genotype
MGI:5142310

cn7

• Allelic Composition: Kif3a^tm1Gsn/Kif3a^tm2Gsn; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * ICR

Polycystic kideny disease in Kif3a^tm1Gsn/Kif3a^tm2Gsn Tg(Cdh16-cre)91Igr/0 mutant mice

behavior/neurological

lethargy ( J:83293 )

• mice exhibit lethargy by P35

growth/size/body

kidney cyst ( J:83293 )

• mutant kidneys contain multiple, fluid-filled cysts in both the cortex and medulla

• cysts are first noted at P5 as fusiform dilatations of the collecting ducts in the renal medulla

• cyst epithelial cells lack primary cilia and display altered cell polarity as well as increased proliferation and apoptosis

kidney cortex cyst ( J:83293 )

kidney medulla cyst ( J:83293 )

• cysts are first noted at P5 as fusiform dilatations of the collecting ducts in the renal medulla

polycystic kidney ( J:83293 )

• by P35, the renal parenchyma is entirely replaced with multiple, large fluid-filled cysts

postnatal growth retardation ( J:83293 )

• mice display growth retardation by P35

enlarged kidney ( J:83293 )

• at P28, mutant kidneys are grossly enlarged

renal/urinary system

absent kidney epithelial cell primary cilium ( J:83293 )

• cilia are present in neonatal collecting ducts prior to the onset of cyst formation (P5), but are lost during postnatal development

• mice lack tubulin-positive cilia on the luminal surfaces of most cyst epithelial cells derived from the loops of Henle and collecting ducts

• cilia are missing from the surface of epithelial cells lining the cysts but are present in adjacent noncystic tubules

increased kidney apoptosis ( J:83293 )

• cyst epithelial cells display increased apoptosis

kidney cyst ( J:83293 )

• mutant kidneys contain multiple, fluid-filled cysts in both the cortex and medulla

• cysts are first noted at P5 as fusiform dilatations of the collecting ducts in the renal medulla

• cyst epithelial cells lack primary cilia and display altered cell polarity as well as increased proliferation and apoptosis

kidney cortex cyst ( J:83293 )

kidney medulla cyst ( J:83293 )

• cysts are first noted at P5 as fusiform dilatations of the collecting ducts in the renal medulla

polycystic kidney ( J:83293 )

• by P35, the renal parenchyma is entirely replaced with multiple, large fluid-filled cysts

enlarged kidney ( J:83293 )

• at P28, mutant kidneys are grossly enlarged

renal interstitial fibrosis ( J:83293 )

• advanced kidney cysts are surrounded by areas of interstitial fibrosis

renal tubule atrophy ( J:83293 )

• advanced kidney cysts are surrounded by atrophic tubules

kidney failure ( J:83293 )

• mice exhibit renal failure by P21

homeostasis/metabolism

increased blood urea nitrogen level ( J:83293 )

• mice exhibit a rapid increase in BUN levels after P14

cellular

absent kidney epithelial cell primary cilium ( J:83293 )

• cilia are present in neonatal collecting ducts prior to the onset of cyst formation (P5), but are lost during postnatal development

• mice lack tubulin-positive cilia on the luminal surfaces of most cyst epithelial cells derived from the loops of Henle and collecting ducts

• cilia are missing from the surface of epithelial cells lining the cysts but are present in adjacent noncystic tubules

increased kidney apoptosis ( J:83293 )

• cyst epithelial cells display increased apoptosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease		DOID:0080322	OMIM:PS173900	J:83293

Genotype
MGI:4443124

cn8

• Allelic Composition: Kif3a^tm2Gsn/Kif3a^tm2Gsn; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

embryo

increased cranial neural crest cell proliferation ( J:158523 )

• increased neural crest cell proliferation in the facial prominences, as shown by BrdU immunostaining

abnormal cranial neural crest cell morphology ( J:158523 )

• cranial neural crest cells do not extend primary cilia

• primary cilia are truncated in frontonasal prominence

nervous system

abnormal cranial neural crest cell morphology ( J:158523 )

• cranial neural crest cells do not extend primary cilia

• primary cilia are truncated in frontonasal prominence

absent corpus callosum ( J:158523 )

• failure of neural fibers to span the midline

craniofacial

abnormal craniofacial bone morphology ( J:158523 )

• craniofacial skeleton elements are displaced laterally but their maturation is unaffected

abnormal cranium morphology ( J:158523 )

• severely dysmorphic

• anterior cranium occultum

• trabecular basal plate is reduced to bony nodules or absent at E17.5

abnormal basisphenoid bone morphology ( J:158523 )

• is reduced to bony nodules or absent at E17.5

abnormal frontal bone morphology ( J:158523 )

• laterally displaced and underdeveloped resulting in an abnormal opening in the skull

absent mandibular condyloid process ( J:158523 )

absent mandibular ramus ( J:158523 )

• ramus is absent

short mandible ( J:158523 )

• 30% shorter than wild-type

abnormal maxilla morphology ( J:158523 )

• laterally displaced at E17.5

abnormal premaxilla morphology ( J:158523 )

• laterally displaced at E17.5

abnormal nasal bone morphology ( J:158523 )

• laterally displaced at E17.5

abnormal palatine bone morphology ( J:158523 )

• the palatine bones are dysmorphic and do not extend towards the midline

• some small ectopic ossifications are found in the midline which may or may not be fragments of the palatine bones

anterior cranium occultum ( J:158523 )

• presence of an abnormal skin-covered gap in the front of the head

abnormal craniofacial development ( J:158523 )

broad frontonasal prominence ( J:158523 )

• at E11.5 and E12.5 infra-nasal measurements show an increase in frontonasal width

• at E14.5, almost 100% wider than wild-type and at E17.5 120% wider than wild-type

cleft secondary palate ( J:158523 )

abnormal nasal septum morphology ( J:158523 )

• at E12.5, septum is evident as a bifid condensation and by E16.5 a duplicated nasal septum is present

digestive/alimentary system

cleft secondary palate ( J:158523 )

skeleton

abnormal craniofacial bone morphology ( J:158523 )

• craniofacial skeleton elements are displaced laterally but their maturation is unaffected

abnormal cranium morphology ( J:158523 )

• severely dysmorphic

• anterior cranium occultum

• trabecular basal plate is reduced to bony nodules or absent at E17.5

abnormal basisphenoid bone morphology ( J:158523 )

• is reduced to bony nodules or absent at E17.5

abnormal frontal bone morphology ( J:158523 )

• laterally displaced and underdeveloped resulting in an abnormal opening in the skull

absent mandibular condyloid process ( J:158523 )

absent mandibular ramus ( J:158523 )

• ramus is absent

short mandible ( J:158523 )

• 30% shorter than wild-type

abnormal maxilla morphology ( J:158523 )

• laterally displaced at E17.5

abnormal premaxilla morphology ( J:158523 )

• laterally displaced at E17.5

abnormal nasal bone morphology ( J:158523 )

• laterally displaced at E17.5

abnormal palatine bone morphology ( J:158523 )

• the palatine bones are dysmorphic and do not extend towards the midline

• some small ectopic ossifications are found in the midline which may or may not be fragments of the palatine bones

anterior cranium occultum ( J:158523 )

• presence of an abnormal skin-covered gap in the front of the head

respiratory system

abnormal nasal bone morphology ( J:158523 )

• laterally displaced at E17.5

abnormal nasal septum morphology ( J:158523 )

• at E12.5, septum is evident as a bifid condensation and by E16.5 a duplicated nasal septum is present

vision/eye

ocular hypertelorism ( J:158523 )

cellular

increased cranial neural crest cell proliferation ( J:158523 )

• increased neural crest cell proliferation in the facial prominences, as shown by BrdU immunostaining

growth/size/body

abnormal nasal bone morphology ( J:158523 )

• laterally displaced at E17.5

cleft secondary palate ( J:158523 )

abnormal nasal septum morphology ( J:158523 )

• at E12.5, septum is evident as a bifid condensation and by E16.5 a duplicated nasal septum is present

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dysostosis		DOID:1934		J:158523

Genotype
MGI:3710959

cn9

• Allelic Composition: Kif3a^tm2Gsn/Kif3a^tm2Gsn; Tg(Col2a1-cre)1Bhr/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

skeleton

spina bifida occulta ( J:121342 )

• at P30, failure of fusion in the dorsal vertebrae

abnormal long bone epiphyseal plate morphology ( J:121342 )

• at P10, the growth plate has altered columnar organization and is discontinuous across the width of the skeletal elements with continuous primary and secondary ossification centers in areas where the growth plate is missing

• 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

• at P30, growth plates in the long bones are missing

abnormal long bone epiphyseal plate proliferative zone ( J:121342 )

• at P7, the length of the zone of flat proliferating cells is reduced

• at P7 and P10 fewer cells are undergoing mitosis (pH3+) in the growth plate (86% and 78%, respectively)

• at P10, columnar alignment of the proliferating cells is lost with abnormal movement of the cells during rotation despite intact polarity of the cells

• at P15, no mitosis is detected, cells have a round morphology and lack polarity

abnormal long bone hypertrophic chondrocyte zone ( J:121342 )

• at P15, hypertrophic cells invade the prehypertrophic zones

abnormal long bone epiphysis morphology ( J:121342 )

• at P7, reduction of the epiphysis is due to reduction in the flat chondrocyte regions without a reduction in the length of the hypertrophic zone

• at P10, the length is reduced; however, the width is increased

• at P30, the growth plates in the long bones are missing

• however, the length of long bones and the levels of ossification are no different than in wild-type mice at E18.5 and P0

decreased length of long bones ( J:121342 )

abnormal rib morphology ( J:121342 )

• at P30, ribs are small and deformed

thoracic vertebral fusion ( J:121342 )

• sporadic at P30

abnormal chondrocyte morphology ( J:121342 )

• at E15.5, P0 and P7, 80% reduction in the number of chondrocytes with cilia

• however, perichondrial cells have cilia

• at P10, the actin cytoskeleton in chondrocytes is disorganized

nervous system

spina bifida occulta ( J:121342 )

• at P30, failure of fusion in the dorsal vertebrae

growth/size/body

disproportionate dwarf ( J:121342 )

• at P30, dwarfism occurs in which there is a 32% reduction in crown to rump and limb length

embryo

spina bifida occulta ( J:121342 )

• at P30, failure of fusion in the dorsal vertebrae

cellular

abnormal actin cytoskeleton morphology ( J:121342 )

• at P10, the actin cytoskeleton in chondrocytes is disorganized