All Phenotypes Kif3a<tm1Gsn> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Kif3a^tm1Gsn
targeted mutation 1, Lawrence SB Goldstein
MGI:1861960

Summary

8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kif3a^tm1Gsn/Kif3a^tm1Gsn	involves: 129S1/Sv * 129X1/SvJ	MGI:2181584
ht2	Kif3a^tm1Gsn/Kif3a⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:2181585
cn3	Kif3a^tm1Gsn/Kif3a^tm2Gsn	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J	MGI:3710952
cn4	Kif3a^tm1Gsn/Kif3a^tm2Gsn Tg(Msx2-cre)5Rem/?	involves: 129S1/Sv * 129X1/SvJ	MGI:3710951
cn5	Kif3a^tm1Gsn/Kif3a^tm2Gsn Tg(FOXJ1-cre/ERT2)1Blh/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA	MGI:5285557
cn6	Kif3a^tm1Gsn/Kif3a^tm2Gsn Tg(Cdh16-cre)91Igr/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * ICR	MGI:5142310
cx7	Gpr161^tm1Lex/Gpr161^tm1Lex Kif3a^tm1Gsn/Kif3a^tm1Gsn	involves: 129 * C57BL/6N	MGI:5475130
cx8	Ift122^sopb/Ift122^sopb Kif3a^tm1Gsn/Kif3a^tm1Gsn	involves: 129S1/Sv * 129X1/SvJ * C3HeB/FeJ * C57BL/6J	MGI:4888268

Allelic Composition	Kif3a^tm1Gsn/Kif3a^tm1Gsn
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kif3a^tm1Gsn mutation (1 available); any Kif3a mutation (33 available)

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

Kif3a^tm1Gsn/Kif3a^tm1Gsn embryos lack cilia on cells in the node

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:54575 )

• homozygotes die at E10

embryo

small pharyngeal arch ( J:54575 )

• at E9.5, all homozygotes exhibit reduced branchial arches

abnormal embryo turning ( J:54575 )

• at E9.5, all homozygotes fail to undergo turning from lordotic to fetal position

abnormal left-right axis patterning ( J:54575 )

• at E9.5, homozygotes display randomized establishment of L-R asymmetry

caudal body truncation ( J:54575 )

• at E9.5, all homozygotes are caudally truncated

decreased embryo size ( J:54575 )

• after E9.0, all homozygous mutant embryos appear smaller than wild-type embryos

abnormal neural tube closure ( J:54575 )

• at E9.5, all homozygotes display defects in neural tube closure

abnormal primitive node morphology ( J:54575 )

• at E7.0-E7.5, the mutant embryonic node is normally positioned; however, the nodal plate appears flatter than normal, and overgrowth of surrounding endodermal cells is often observed

• no other obvious morphological defects are noted prior to E9.0

absent embryonic cilia ( J:54575 )

• at E7.0-E7.5, homozygotes consistently lack cilia on all cells of the embryonic node

cardiovascular system

abnormal heart looping ( J:54575 )

• at E9.5, 7 of 13 homozygotes exhibit either delayed or reversed heart looping

• the remaining (6 of 13) homozygotes show normal cardiac looping

abnormal direction of heart looping ( J:54575 )

• at E9.5, 4 of 13 homozygotes show reversed cardiac looping

delayed heart looping ( J:54575 )

• at E9.5, 3 of 13 homozygotes display delayed looping accompanied by pericardial edema

pericardial edema ( J:54575 )

• at E9.5, many homozygotes show a globular pericardium with edema

growth/size/body

decreased embryo size ( J:54575 )

• after E9.0, all homozygous mutant embryos appear smaller than wild-type embryos

situs inversus ( J:54575 )

• at E9.5, 4 of 13 homozygotes show reversed cardiac looping

limbs/digits/tail

abnormal limb development ( J:54575 )

• at E9.5, all homozygotes exhibit reduced or absent limb primordia

nervous system

abnormal neural tube closure ( J:54575 )

• at E9.5, all homozygotes display defects in neural tube closure

craniofacial

small pharyngeal arch ( J:54575 )

• at E9.5, all homozygotes exhibit reduced branchial arches

homeostasis/metabolism

pericardial edema ( J:54575 )

• at E9.5, many homozygotes show a globular pericardium with edema

cellular

absent embryonic cilia ( J:54575 )

• at E7.0-E7.5, homozygotes consistently lack cilia on all cells of the embryonic node

Allelic Composition	Kif3a^tm1Gsn/Kif3a⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kif3a^tm1Gsn mutation (1 available); any Kif3a mutation (33 available)

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

Kif3a^tm1Gsn/Kif3a^tm1Gsn embryos display morphological and asymmetrical defects

embryo

abnormal embryo turning ( J:54575 )

• at E9.5, a subset (4 of 34) heterozygotes fail to undergo turning from lordotic to fetal position

decreased embryo size ( J:54575 )

• after E9.0, a subset (4 of 34) heterozygotes appear smaller than all wild-type embryos and most heterozygous (30/34) littermates

cardiovascular system

abnormal heart looping ( J:54575 )

• at E9.5, a subset (4 of 34) heterozygotes display retarded but normal cardiac looping along with pericardial edema

pericardial edema ( J:54575 )

• at E9.5, a subset (4 of 34) heterozygotes display pericardial edema

growth/size/body

decreased embryo size ( J:54575 )

• after E9.0, a subset (4 of 34) heterozygotes appear smaller than all wild-type embryos and most heterozygous (30/34) littermates

homeostasis/metabolism

pericardial edema ( J:54575 )

• at E9.5, a subset (4 of 34) heterozygotes display pericardial edema

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kif3a^tm1Gsn mutation (1 available); any Kif3a mutation (33 available)
Kif3a^tm2Gsn mutation (1 available); any Kif3a mutation (33 available)

♀	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

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

Find Mice

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

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

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

Find Mice

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

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

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

Find Mice

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

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

Allelic Composition	Gpr161^tm1Lex/Gpr161^tm1Lex Kif3a^tm1Gsn/Kif3a^tm1Gsn
Genetic Background	involves: 129 * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gpr161^tm1Lex mutation (1 available); any Gpr161 mutation (30 available)
Kif3a^tm1Gsn mutation (1 available); any Kif3a mutation (33 available)

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

embryo

abnormal embryo development ( J:193395 )

• general morphology resembles that of Kif3a single mutants

decreased embryo size ( J:193395 )

• similar to Kif3a single mutants

nervous system

abnormal nervous system development ( J:193395 )

• neural patterning resembles that of Kif3a single mutants

growth/size/body

decreased embryo size ( J:193395 )

• similar to Kif3a single mutants

Allelic Composition	Ift122^sopb/Ift122^sopb Kif3a^tm1Gsn/Kif3a^tm1Gsn
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C3HeB/FeJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift122^sopb mutation (0 available); any Ift122 mutation (52 available)
Kif3a^tm1Gsn mutation (1 available); any Kif3a mutation (33 available)

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

embryo

absent embryonic cilia ( J:168317 )

• lack primary cilia and resemble mice homozygous for Kif3a^tm1Gsn alone

abnormal neural tube morphology ( J:168317 )

• patterning resembles that in mice homozygous for Kif3a^tm1Gsn alone

nervous system

abnormal neural tube morphology ( J:168317 )

• patterning resembles that in mice homozygous for Kif3a^tm1Gsn alone

cellular

absent embryonic cilia ( J:168317 )

• lack primary cilia and resemble mice homozygous for Kif3a^tm1Gsn alone

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