Phenotypes associated with this allele

• Allele Symbol: Lhx1^tm1Tmj
• Allele Name: targeted mutation 1, Thomas M Jessell
• Allele ID: 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

Genotype
MGI:3580494

ht1

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

• ♀: 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

Genotype
MGI:3615499

cn2

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

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

Genotype
MGI:3719690

cn3

• 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

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

Genotype
MGI:3719689

cn4

• 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

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)

Genotype
MGI:3580500

cn5

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

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

Genotype
MGI:3580503

cn6

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

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

Genotype
MGI:3662908

cn7

• 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

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

Genotype
MGI:3662907

cx8

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

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