All Phenotypes Lhx1<tm1Tmj> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Lhx1^tm1Tmj
targeted mutation 1, Thomas M Jessell
MGI:2385717

Summary

8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Lhx1^tm1Bhr/Lhx1^tm1Tmj	involves: 129S/SvEv * C57BL/6	MGI:3580494
cn2	Lhx1^tm1Tmj/Lhx1^tm2.1Bhr Tg(Pax2-cre)10Shwl/0	involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6 * CD-1 * SJL	MGI:3615499
cn3	En1^tm2(cre)Wrst/En1⁺ Lhx1^tm1Tmj/Lhx1^tm2.1Bhr Lhx5^tm1Lmgd/Lhx5^tm1Lmgd	involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ	MGI:3719690
cn4	Lhx1^tm1Tmj/Lhx1^tm4Bhr Lhx5^tm1Lmgd/Lhx5^tm1Lmgd Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3719689
cn5	Lhx1^tm2.1Bhr/Lhx1^tm1Tmj Tg(Hoxb7-cre)13Amc/0	involves: 129S/SvEv * C57BL/6	MGI:3580500
cn6	Lhx1^tm2.1Bhr/Lhx1^tm1Tmj Tg(Rarb-cre)1Bhr/0	involves: 129S/SvEv * C57BL/6 * SJL	MGI:3580503
cn7	Lhx1^tm1Tmj/Lhx1⁺ Ret^tm1Kln/Ret^tm1Kln Tg(Nes-cre)1Kln/0	involves: 129/Sv * BALB/c * C57BL/6 * CBA/J * SJL	MGI:3662908
cx8	Lhx1^tm1Tmj/Lhx1⁺ Ret^tm1.1Kln/Ret^tm1.1Kln	involves: 129/Sv * BALB/c * C57BL/6 * CBA/J	MGI:3662907

Allelic Composition	Lhx1^tm1Bhr/Lhx1^tm1Tmj
Genetic Background	involves: 129S/SvEv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lhx1^tm1Bhr mutation (2 available); any Lhx1 mutation (22 available)
Lhx1^tm1Tmj mutation (0 available); any Lhx1 mutation (22 available)

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

renal/urinary system

absent metanephros ( J:98831 )

• neonates lacked the metanephros

absent ureter ( J:98831 )

• neonates lacked the ureter

reproductive system

abnormal female reproductive system morphology ( J:98831 )

• females lacked the reproductive tract but had normal ovaries

abnormal male reproductive system morphology ( J:98831 )

• males lacked the reproductive tract but had normal testes

growth/size/body

abnormal anterior head development ( J:98831 )

• neonates lacked the anterior head

Allelic Composition	Lhx1^tm1Tmj/Lhx1^tm2.1Bhr Tg(Pax2-cre)10Shwl/0
Genetic Background	involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6 * CD-1 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lhx1^tm1Tmj mutation (0 available); any Lhx1 mutation (22 available)
Lhx1^tm2.1Bhr mutation (0 available); any Lhx1 mutation (22 available)
Tg(Pax2-cre)10Shwl mutation (0 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:104938 )

renal/urinary system

abnormal kidney morphology ( J:104938 )

• kidneys are rudimentary in dead neonates

hydronephrosis ( J:104938 )

• some dead neonates have hydronephrotic kidneys

small kidney ( J:104938 )

• at E14.5, kidneys are approximately half the size of wild-type kidneys

renal hypoplasia ( J:104938 )

• at 3 weeks, mice displayed renal hypoplasia or renal hypoplasia with unilateral hydronephrosis and megaureter

duplex kidney ( J:104938 )

• 2 of 7 neonates necropsied on P1 had duplex kidneys

single kidney ( J:104938 )

• at E14.5, 20% of mutants have unilateral renal agenesis

abnormal ureter morphology ( J:104938 )

• the two ureters from the duplex kidneys join before entering bladder

• in some instances, the ureter and bladder do not separate or attach to the bladder

• the ureter is very tortuous

impaired branching involved in ureteric bud morphogenesis ( J:104938 )

• at E11.5, ureteric bud is Y-shaped not T-shaped suggesting branching is impaired

• at E12.4, reduced branching is observed in the ureteric bud

abnormal ureteric bud elongation ( J:104938 )

• at E11.5, ureteric bud outgrowth is delayed

embryo

rudimentary Mullerian ducts ( J:104938 )

• only rostral-most part of duct forms in mutants

• female sex ducts are rudimentary

abnormal Wolffian duct morphology ( J:104938 )

• at E10.75, extension of the nephric duct to urogenital sinus is impaired

Wolffian duct degeneration ( J:104938 )

• at E14.5, nephric duct is not maintained

rudimentary Wolffian ducts ( J:104938 )

• male sex ducts are rudimentary

• at E10.75, extension of the nephric duct to urogenital sinus is impaired

Allelic Composition	En1^tm2(cre)Wrst/En1⁺ Lhx1^tm1Tmj/Lhx1^tm2.1Bhr Lhx5^tm1Lmgd/Lhx5^tm1Lmgd
Genetic Background	involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1^tm2(cre)Wrst mutation (1 available); any En1 mutation (32 available)
Lhx1^tm1Tmj mutation (0 available); any Lhx1 mutation (22 available)
Lhx1^tm2.1Bhr mutation (0 available); any Lhx1 mutation (22 available)
Lhx5^tm1Lmgd mutation (0 available); any Lhx5 mutation (18 available)

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

nervous system

decreased Purkinje cell number ( J:123471 )

• largely absent at E18.5

absent Purkinje cell layer ( J:123471 )

• layer is absent at E18.5

• however, the external granule cell layer appears normal

small cerebellum ( J:123471 )

• small at E18.5 compared to controls

Allelic Composition	Lhx1^tm1Tmj/Lhx1^tm4Bhr Lhx5^tm1Lmgd/Lhx5^tm1Lmgd Tg(Nes-cre)1Kln/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lhx1^tm1Tmj mutation (0 available); any Lhx1 mutation (22 available)
Lhx1^tm4Bhr mutation (0 available); any Lhx1 mutation (22 available)
Lhx5^tm1Lmgd mutation (0 available); any Lhx5 mutation (18 available)
Tg(Nes-cre)1Kln mutation (4 available)

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

nervous system

absent cerebellar foliation ( J:123471 )

• absent at E18.5

decreased Purkinje cell number ( J:123471 )

• largely absent at E18.5

• however, granule cells are specified properly

absent Purkinje cell layer ( J:123471 )

• layer is absent at E18.5

small cerebellum ( J:123471 )

• small at E14.5 and E18.5 compared to controls (mice with at least 1 wild-type allele)

Allelic Composition	Lhx1^tm2.1Bhr/Lhx1^tm1Tmj Tg(Hoxb7-cre)13Amc/0
Genetic Background	involves: 129S/SvEv * C57BL/6

Find Mice

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

renal/urinary system

decreased renal glomerulus number ( J:98831 )

• hypoplastic metanephroi with reduced number of glomeruli

• however, morphologically normal medulla and glomeruli

small metanephros ( J:98831 )

• neonates had small metanephroi that were functional at birth

hydronephrosis ( J:98831 )

• observed in 40% of mutants

renal hypoplasia ( J:98831 )

decreased nephron number ( J:98831 )

• greatly reduced numbers of developing nephrons at birth

abnormal ureter development ( J:98831 )

• the distal ureter was closed in both sexes

ectopic ureter ( J:98831 )

• the distal ureter ended abnormally in the uterus in some females

hydroureter ( J:98831 )

• observed in 40% of mutants

abnormal ureteric bud morphology ( J:98831 )

• delayed induction of the ureteric bud

reproductive system

uterus hypoplasia ( J:98831 )

• 57.1% of mutant females had completely or partially absent uteri with residual uterine tissue discontinuously present

• posterior uterus was more frequently absent compared to the anterior region

absent uterus ( J:98831 )

• 57.1% of mutant females had completely or partially absent uteri

absent epididymis ( J:98831 )

• absent epididymis in all mutant males

absent vas deferens ( J:98831 )

embryo

abnormal mesonephros morphology ( J:98831 )

• loss of caudal mesonephric tubules; however, the cranial mesonephros was present

abnormal Mullerian duct morphology ( J:98831 )

• exhibited Mullerian duct aplasia, impaired posterior elongation of the Mullerian duct and Mullerian duct degeneration adjacent to where the Wolffian duct was lost

Mullerian duct degeneration ( J:98831 )

absent Mullerian ducts ( J:98831 )

rudimentary Mullerian ducts ( J:98831 )

Wolffian duct degeneration ( J:98831 )

• degeneration of the nephric (Wolffian) duct epithelium that resulted in the absence of most parts of the reproductive tract in all mutant males, except for some residual tissue

Allelic Composition	Lhx1^tm2.1Bhr/Lhx1^tm1Tmj Tg(Rarb-cre)1Bhr/0
Genetic Background	involves: 129S/SvEv * C57BL/6 * SJL

Find Mice

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

mortality/aging

neonatal lethality, complete penetrance ( J:98831 )

• died within the first day of birth

renal/urinary system

absent renal glomerulus ( J:98831 )

• absent glomeruli and their associated tubules in neonates

abnormal kidney development ( J:98831 )

• nephron development was arrested at the stage of the renal vesicle

abnormal kidney medulla development ( J:98831 )

• medulla was not correctly formed in neonates

small metanephros ( J:98831 )

• neonates had small metanephroi without nephrons but with normal ureters and normal reproductive tracts

renal hypoplasia ( J:98831 )

absent nephron ( J:98831 )

• neonates had small metanephroi with no nephrons

abnormal urinary bladder morphology ( J:98831 )

• shrunken bladder with no urine

Allelic Composition	Lhx1^tm1Tmj/Lhx1⁺ Ret^tm1Kln/Ret^tm1Kln Tg(Nes-cre)1Kln/0
Genetic Background	involves: 129/Sv * BALB/c * C57BL/6 * CBA/J * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lhx1^tm1Tmj mutation (0 available); any Lhx1 mutation (22 available)
Ret^tm1Kln mutation (1 available); any Ret mutation (53 available)
Tg(Nes-cre)1Kln mutation (4 available)

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

nervous system

abnormal axon guidance ( J:110955 )

• peroneal nerve at E12.5 is rerouted to the path of the tibial nerve

• trajectory of small branch emerging from PN in mutants does not match stereotyped path of dorsal growing PN axons in controls

• phenotype of mice is more severe than in wild-type Lhx1 background

cellular

abnormal axon guidance ( J:110955 )

• peroneal nerve at E12.5 is rerouted to the path of the tibial nerve

• trajectory of small branch emerging from PN in mutants does not match stereotyped path of dorsal growing PN axons in controls

• phenotype of mice is more severe than in wild-type Lhx1 background

Allelic Composition	Lhx1^tm1Tmj/Lhx1⁺ Ret^tm1.1Kln/Ret^tm1.1Kln
Genetic Background	involves: 129/Sv * BALB/c * C57BL/6 * CBA/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lhx1^tm1Tmj mutation (0 available); any Lhx1 mutation (22 available)
Ret^tm1.1Kln mutation (0 available); any Ret mutation (53 available)

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

nervous system

abnormal axon guidance ( J:110955 )

• peroneal nerve at E12.5 is rerouted to the path of the tibial nerve

• trajectory of small branch emerging from PN in mutants does not match stereotyped path of dorsal growing PN axons in controls

cellular

abnormal axon guidance ( J:110955 )

• peroneal nerve at E12.5 is rerouted to the path of the tibial nerve

• trajectory of small branch emerging from PN in mutants does not match stereotyped path of dorsal growing PN axons in controls

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