Phenotypes associated with this allele

• Allele Symbol: Lhx1^tm1Bhr
• Allele Name: targeted mutation 1, Richard R Behringer
• Allele ID: MGI:1857848
• Summary: 10 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lhx1^tm1Bhr/Lhx1^tm1Bhr	involves: 129S7/SvEvBrd	MGI:3663273
hm2	Lhx1^tm1Bhr/Lhx1^tm1Bhr	involves: 129S7/SvEvBrd * C57BL/6	MGI:2181772
ht3	Lhx1^tm1Bhr/Lhx1^+	involves: 129S7/SvEvBrd * C3H/He * C57BL/6 * ICR	MGI:3663941
ht4	Lhx1^tm1Bhr/Lhx1^tm1Tmj	involves: 129S/SvEv * C57BL/6	MGI:3580494
cn5	Lhx1^tm1Bhr/Lhx1^tm2.1Rob Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S/SvEv * C57BL/6 * C57BL/6N * CBA	MGI:5699420
cx6	Lhx1^tm1Bhr/Lhx1^+ Ssbp3^Tg(SOD1)1Hssk/Ssbp3^+	involves: 129S7/SvEvBrd * C3H/He * C57BL/6 * ICR	MGI:3663940
cx7	Cer1^tm1Bhr/Cer1^tm1Bhr Lhx1^tm1Bhr/Lhx1^+	involves: 129S7/SvEvBrd * C57BL/6	MGI:3723147
cx8	Lhx1^tm1Bhr/Lhx1^+ Pgap1^oto/Pgap1^oto	involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J	MGI:4355069
cx9	Lhx1^tm1Bhr/Lhx1^+ Pgap1^oto/Pgap1^+	involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J	MGI:4355067
cx10	Lhx1^tm1Bhr/Lhx1^tm1Bhr Pgap1^oto/Pgap1^+	involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J	MGI:4355068

Genotype
MGI:3663273

hm1

• Allelic Composition: Lhx1^tm1Bhr/Lhx1^tm1Bhr
• Genetic Background: involves: 129S7/SvEvBrd

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

embryo

abnormal rostral-caudal axis patterning ( J:74124 )

• A-P axis appears to be aligned incorrectly and the anterior pole of the axis remains in the distal region of the embryo

abnormal primitive streak formation ( J:74124 )

• the streak is incorrectly positioned in the proximal region of the epiblast

abnormal primitive streak elongation ( J:74124 )

• primitive streak does not extend the full length of the posterior side of the embryo

Genotype
MGI:2181772

hm2

• Allelic Composition: Lhx1^tm1Bhr/Lhx1^tm1Bhr
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

mortality/aging

perinatal lethality, complete penetrance ( J:24115 )

• 4 of about 1000 pups were delivered stillborn

embryonic lethality during organogenesis, incomplete penetrance ( J:24115 )

• majority die around E10, however 4 of about 1000 pups were delivered stillborn

embryo

incomplete embryo turning ( J:24115 )

• do not complete turning by E9.5

abnormal gastrulation movements ( J:24115 )

rostral-caudal axis duplication ( J:24115 )

• 3 of 60 E8.5-9.5 embryos show a partial secondary axis; all lack anterior head structures but have anterior neural duplications

decreased embryo size ( J:24115 )

• smaller at E9.5

abnormal egg cylinder morphology ( J:24115 )

absent prechordal mesoderm ( J:24115 )

• lack prechordal mesoderm

abnormal primitive node morphology ( J:24115 )

• no distinct node is present at E7.5 but develop an organized node structure by E8.5

embryonic-extraembryonic boundary constriction ( J:24115 )

• exhibit a constriction between the embryonic and extraembryonic regions

abnormal allantois morphology ( J:24115 )

dilated allantois ( J:24115 )

• allantois is abnormally distended

small allantois ( J:24115 )

• allantois is shorter

growth/size/body

decreased embryo size ( J:24115 )

• smaller at E9.5

abnormal anterior head development ( J:24115 )

• embryos lack head structures just anterior to the otic vesicle

acephaly ( J:24115 )

• the four stillborn pups are headless

endocrine/exocrine glands

agonadal ( J:24115 )

• the four stillborn pups lack gonads

absent ovary ( J:24115 )

♀

absent testes ( J:24115 )

♂

nervous system

abnormal brain development ( J:24115 )

• exhibit brain/neural truncation anterior to rhombomere 3

abnormal hindbrain development ( J:24115 )

• portion of the hindbrain posterior to rhombomere 3 is missing

absent midbrain ( J:24115 )

absent forebrain ( J:24115 )

abnormal spinal cord morphology ( J:24115 )

• kinks in spinal cord at E9.5, incomplete penetrance

renal/urinary system

absent kidney ( J:24115 )

• the four stillborn pups lack kidneys

reproductive system

agonadal ( J:24115 )

• the four stillborn pups lack gonads

absent ovary ( J:24115 )

♀

absent testes ( J:24115 )

♂

Genotype
MGI:3663941

ht3

• Allelic Composition: Lhx1^tm1Bhr/Lhx1⁺
• Genetic Background: involves: 129S7/SvEvBrd * C3H/He * C57BL/6 * ICR

normal phenotype

no abnormal phenotype detected ( J:98485 )

• single heterozygotes from intercrosses with Ssbp3^{Tg(SOD1)1Hssk}/+ mice appear normal at E9.0-9.5

Genotype
MGI:3580494

ht4

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

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:5699420

cn5

• Allelic Composition: Lhx1^tm1Bhr/Lhx1^tm2.1Rob; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6 * C57BL/6N * CBA

cardiovascular system

abnormal heart morphology ( J:226614 )

• by E9.5, mice exhibit cardiac defects including abnormal looping, expanded pericardium and cardia bifida compared with wild-type mice

abnormal heart looping ( J:226614 )

cardia bifida ( J:226614 )

enlarged pericardium ( J:226614 )

• expanded pericardium

embryo

abnormal endoderm development ( J:226614 )

• reduced anterior endoderm

embryonic growth retardation ( J:226614 )

• by E10.5

abnormal primitive node morphology ( J:226614 )

• thickened distal tip with a local out-pocketing of cells on the surface of the distal tip

nervous system

abnormal nervous system development ( J:226614 )

• reduced neural tissue

cellular

cellular necrosis ( J:226614 )

• necrotic embryos by E10.5

growth/size/body

embryonic growth retardation ( J:226614 )

• by E10.5

Genotype
MGI:3663940

cx6

• Allelic Composition: Lhx1^tm1Bhr/Lhx1⁺; Ssbp3^{Tg(SOD1)1Hssk}/Ssbp3⁺
• Genetic Background: involves: 129S7/SvEvBrd * C3H/He * C57BL/6 * ICR

growth/size/body

embryonic growth retardation ( J:98485 )

• some double heterozygotes display severe growth retardation and microcephaly

microcephaly ( J:98485 )

• double heterozygotes display variable degrees of microcephaly; some embryos appear normal, others display microcephaly while another subset show microcephaly and severe growth retardation

embryo

failure of initiation of embryo turning ( J:98485 )

• the most severely affected double heterozygotes fail to undergo embryonic turning

embryonic growth retardation ( J:98485 )

• some double heterozygotes display severe growth retardation and microcephaly

Genotype
MGI:3723147

cx7

• Allelic Composition: Cer1^tm1Bhr/Cer1^tm1Bhr; Lhx1^tm1Bhr/Lhx1⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

normal phenotype

no abnormal phenotype detected ( J:62080 )

• the expected frequency of mutants are obtain and they appear phenotypically normal

Genotype
MGI:4355069

cx8

• Allelic Composition: Lhx1^tm1Bhr/Lhx1⁺; Pgap1^oto/Pgap1^oto
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J

nervous system

abnormal brain morphology ( J:41878 )

• in severely affected mice, anterior central nervous system defects are more severe than in Pgap1^oto homozygotes

abnormal diencephalon morphology ( J:41878 )

• the anterior-ventral diencephalon is hypoplastic

abnormal telencephalon morphology ( J:41878 )

• reduced in 75% mice at E9.5

Genotype
MGI:4355067

cx9

• Allelic Composition: Lhx1^tm1Bhr/Lhx1⁺; Pgap1^oto/Pgap1⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J

nervous system

abnormal telencephalon morphology ( J:41878 )

• reduced in 15% mice at E8.5 and E9.5

Genotype
MGI:4355068

cx10

• Allelic Composition: Lhx1^tm1Bhr/Lhx1^tm1Bhr; Pgap1^oto/Pgap1⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J

embryo

abnormal developmental patterning ( J:41878 )

• some mice lack a well-developed body axis

nervous system

abnormal brain morphology ( J:41878 )

• at E9 to E9.5, anterior truncations are more severe than in Lhx1^tm1Bhr homozygotes