All Phenotypes Ahi1<tm1Jgg> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Ahi1^tm1Jgg
targeted mutation 1, Joseph G Gleeson
MGI:4367773

Summary

9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ahi1^tm1Jgg/Ahi1^tm1Jgg	involves: 129 * C57BL/6 * FVB/N	MGI:4437799
hm2	Ahi1^tm1Jgg/Ahi1^tm1Jgg	involves: 129S1/Sv * 129X1/SvJ	MGI:5007765
cn3	Ahi1^tm1Jgg/Ahi1^tm2.1Jgg Tg(Pax6-cre,GFP)2Pgr/0	involves: 129 * C57BL/6 * FVB/N	MGI:4437797
cn4	Ahi1^tm1Jgg/Ahi1^tm2.1Jgg Nphp1^tm1Jgg/Nphp1⁺ Tg(Pax6-cre,GFP)2Pgr/0	involves: 129 * C57BL/6 * FVB/N * NMRI	MGI:4437798
cn5	Ahi1^tm1Jgg/Ahi1^tm2.1Jgg Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * FVB/N * SJL	MGI:4437796
cx6	Ahi1^tm1Jgg/Ahi1^tm1Jgg Rho^tm1Jlem/Rho⁺	involves: 129 * C57BL/6 * FVB/N	MGI:4437802
cx7	Ahi1^tm1Jgg/Ahi1⁺ Nphp1^tm1Jgg/Nphp1^tm1Jgg	involves: 129 * C57BL/6 * FVB/N * NMRI	MGI:4437801
cx8	Ahi1^tm1Jgg/Ahi1⁺ Lrp6^Gt(Ex187)Byg/Lrp6⁺	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ	MGI:4367782
cx9	Ahi1^tm1Jgg/Ahi1^tm1Jgg Tg(TCF/Lef1-lacZ)34Efu/0	involves: 129S1/Sv * 129X1/SvJ	MGI:4367783

Allelic Composition	Ahi1^tm1Jgg/Ahi1^tm1Jgg
Genetic Background	involves: 129 * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ahi1^tm1Jgg mutation (1 available); any Ahi1 mutation (80 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:158019 )

• mice die between birth and P10

vision/eye

vision/eye phenotype ( J:158019 )

N	• photoreceptor ciliary axonemes are normal

abnormal retina apoptosis ( J:158019 )

• before 3 weeks of age

absent photoreceptor outer segment ( J:158019 )

• outer segments fail to form unlike in wild-type mice

retina photoreceptor degeneration ( J:158019 )

• at 1 month, mice exhibit rapid loss of outer nuclear (photoreceptor) layer unlike wild-type mice

thin retina outer nuclear layer ( J:158019 )

growth/size/body

decreased body size ( J:158019 )

decreased body weight ( J:158019 )

nervous system

absent photoreceptor outer segment ( J:158019 )

• outer segments fail to form unlike in wild-type mice

retina photoreceptor degeneration ( J:158019 )

• at 1 month, mice exhibit rapid loss of outer nuclear (photoreceptor) layer unlike wild-type mice

cellular

abnormal retina apoptosis ( J:158019 )

• before 3 weeks of age

Allelic Composition	Ahi1^tm1Jgg/Ahi1^tm1Jgg
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ahi1^tm1Jgg mutation (1 available); any Ahi1 mutation (80 available)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:172420 )

• early postnatal lethality which is not rescued by lithium treatment

growth/size/body

decreased body size ( J:172420 )

• runting which is not rescued by lithium treatment

nervous system

reduced cerebellar foliation ( J:172420 )

• foliation defect in lobules V, VI, VII

• decrease of 1.5 folia on average

• persists beyond 3 weeks

• foliation defect at 5 days of age

• partially rescued by lithium treatment

decreased brain size ( J:172420 )

• overall brain size reduced 17%

abnormal cerebellar hemisphere morphology ( J:172420 )

• separated at the midline at E12.5

• lengthened roof plate at E12.5 and ider at E13.5

abnormal cerebellar granule layer morphology ( J:172420 )

• decreased proliferation of granule neurons at E16.5 but recovering at E18.5

• partially rescued by lithium treatment

abnormal cerebellum vermis morphology ( J:172420 )

• size of the vermis is reduced 40%

• small vermis detectable at 4 days of age

• midline fusion defect at E16.5

• vermis is thinner and malformed

cerebellum hypoplasia ( J:172420 )

• cerebellum small and hypoplastic

• partially rescued by lithium treatment

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Joubert syndrome 3		DOID:0110998	OMIM:608629	J:172420

Allelic Composition	Ahi1^tm1Jgg/Ahi1^tm2.1Jgg Tg(Pax6-cre,GFP)2Pgr/0
Genetic Background	involves: 129 * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ahi1^tm1Jgg mutation (1 available); any Ahi1 mutation (80 available)
Ahi1^tm2.1Jgg mutation (1 available); any Ahi1 mutation (80 available)
Tg(Pax6-cre,GFP)2Pgr mutation (1 available)

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

vision/eye

thin retina outer nuclear layer ( J:158019 )

Allelic Composition	Ahi1^tm1Jgg/Ahi1^tm2.1Jgg Nphp1^tm1Jgg/Nphp1⁺ Tg(Pax6-cre,GFP)2Pgr/0
Genetic Background	involves: 129 * C57BL/6 * FVB/N * NMRI

Find Mice

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

vision/eye

thin retina outer nuclear layer ( J:158019 )

Allelic Composition	Ahi1^tm1Jgg/Ahi1^tm2.1Jgg Tg(Nes-cre)1Kln/0
Genetic Background	involves: 129 * C57BL/6 * FVB/N * SJL

Find Mice

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

mortality/aging

mortality/aging ( J:158019 )

N	• mice exhibit normal mortality through weaning

vision/eye

abnormal rod electrophysiology ( J:158019 )

• at P19, dark-adapted electrical activity is absent unlike in wild-type mice

nervous system

nervous system phenotype ( J:158019 )

N	• brain morphology is normal

Allelic Composition	Ahi1^tm1Jgg/Ahi1^tm1Jgg Rho^tm1Jlem/Rho⁺
Genetic Background	involves: 129 * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ahi1^tm1Jgg mutation (1 available); any Ahi1 mutation (80 available)
Rho^tm1Jlem mutation (6 available); any Rho mutation (51 available)

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

vision/eye

absent photoreceptor outer segment ( J:158019 )

• outer segments fail to form unlike in wild-type mice

retina photoreceptor degeneration ( J:158019 )

• photoreceptor loss is delayed compared to in Ahi1^tm1Jgg homozygotes

nervous system

absent photoreceptor outer segment ( J:158019 )

• outer segments fail to form unlike in wild-type mice

retina photoreceptor degeneration ( J:158019 )

• photoreceptor loss is delayed compared to in Ahi1^tm1Jgg homozygotes

Allelic Composition	Ahi1^tm1Jgg/Ahi1⁺ Nphp1^tm1Jgg/Nphp1^tm1Jgg
Genetic Background	involves: 129 * C57BL/6 * FVB/N * NMRI

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ahi1^tm1Jgg mutation (1 available); any Ahi1 mutation (80 available)
Nphp1^tm1Jgg mutation (1 available); any Nphp1 mutation (26 available)

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

vision/eye

thin retina outer nuclear layer ( J:158019 )

Allelic Composition	Ahi1^tm1Jgg/Ahi1⁺ Lrp6^Gt(Ex187)Byg/Lrp6⁺
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ahi1^tm1Jgg mutation (1 available); any Ahi1 mutation (80 available)
Lrp6^Gt(Ex187)Byg mutation (1 available); any Lrp6 mutation (95 available)

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

renal/urinary system

kidney cyst ( J:154321 )

• at later stages

small kidney ( J:154321 )

abnormal renal tubule morphology ( J:154321 )

• tubule abnormalities are consistent with nephronophthisis

dilated renal tubule ( J:154321 )

• at later stages

homeostasis/metabolism

increased circulating creatinine level ( J:154321 )

• in one mouse

growth/size/body

kidney cyst ( J:154321 )

• at later stages

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nephronophthisis		DOID:12712	OMIM:PS256100	J:154321

Allelic Composition	Ahi1^tm1Jgg/Ahi1^tm1Jgg Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ahi1^tm1Jgg mutation (1 available); any Ahi1 mutation (80 available)
Tg(TCF/Lef1-lacZ)34Efu mutation (2 available)

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

mortality/aging

premature death ( J:154321 )

• 80% of mice fail to survive to adulthood

renal/urinary system

abnormal kidney morphology ( J:154321 )

• by 5 months, kidneys exhibit characteristics of nephronophthisis with abnormal tubular basement membrane including thickening and disintegration with tubular collapse, interstitial cell infiltration and fibrosis, and multiple microcysts and tubular dilation unlike in wild-type mice

• the cortico-medullary region is most affected

• however, kidney ciliogenesis is normal

kidney cyst ( J:154321 )

• by 5 months, mice exhibit microcysts unlike wild-type mice

• in mice older than 1 year of age, the average cyst area as a ration of total kidney area is increased compared to in younger mice

small kidney ( J:154321 )

• by 5 months

dilated renal tubule ( J:154321 )

• by 5 months

renal fibrosis ( J:154321 )

• by 5 months

abnormal kidney physiology ( J:154321 )

• mice subjected to renal ischemia and reperfusion or cisplatin treatment exhibit defective recovery with increased cysts compared with similarly treated wild-type mice

• however, susceptibility to renal ischemia/reperfusion injury is normal

kidney inflammation ( J:154321 )

• by 5 months

isosthenuria ( J:154321 )

• at 21 months, mice exhibit defective urine-concentrating ability compared to in wild-type mice

homeostasis/metabolism

increased circulating creatinine level ( J:154321 )

• moderately at 21 months

decreased circulating serum albumin level ( J:154321 )

• at 21 months

abnormal response to injury ( J:154321 )

• mice subjected to renal ischemia and reperfusion or cisplatin treatment exhibit defective recovery compared with similarly treated wild-type mice

• however, susceptibility to renal ischemia/reperfusion- or cisplatin-induced injury is normal

immune system

kidney inflammation ( J:154321 )

• by 5 months

growth/size/body

kidney cyst ( J:154321 )

• by 5 months, mice exhibit microcysts unlike wild-type mice

• in mice older than 1 year of age, the average cyst area as a ration of total kidney area is increased compared to in younger mice

decreased body size ( J:154321 )

cellular

abnormal basement membrane morphology ( J:154321 )

• in kidneys at 5 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nephronophthisis		DOID:12712	OMIM:PS256100	J:154321

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