Phenotypes associated with this allele
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lhx1tm1Bhr mutation
(2 available);
any
Lhx1 mutation
(22 available)
|
|
|
embryo
|
|
• A-P axis appears to be aligned incorrectly and the anterior pole of the axis remains in the distal region of the embryo
|
|
|
• the streak is incorrectly positioned in the proximal region of the epiblast
|
|
|
• primitive streak does not extend the full length of the posterior side of the embryo
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lhx1tm1Bhr mutation
(2 available);
any
Lhx1 mutation
(22 available)
|
|
|
mortality/aging
|
|
• 4 of about 1000 pups were delivered stillborn
|
|
|
• majority die around E10, however 4 of about 1000 pups were delivered stillborn
|
embryo
|
|
• do not complete turning by E9.5
|
|
|
• 3 of 60 E8.5-9.5 embryos show a partial secondary axis; all lack anterior head structures but have anterior neural duplications
|
|
|
• lack prechordal mesoderm
|
|
|
• no distinct node is present at E7.5 but develop an organized node structure by E8.5
|
|
|
• exhibit a constriction between the embryonic and extraembryonic regions
|
|
|
• allantois is abnormally distended
|
growth/size/body
|
|
• embryos lack head structures just anterior to the otic vesicle
|
|
|
• the four stillborn pups are headless
|
endocrine/exocrine glands
|
|
• the four stillborn pups lack gonads
|
nervous system
|
|
• exhibit brain/neural truncation anterior to rhombomere 3
|
|
|
• portion of the hindbrain posterior to rhombomere 3 is missing
|
|
|
• kinks in spinal cord at E9.5, incomplete penetrance
|
renal/urinary system
|
|
• the four stillborn pups lack kidneys
|
reproductive system
|
|
• the four stillborn pups lack gonads
|
Allelic
Composition |
Lhx1tm1Bhr/Lhx1+
|
|
Genetic
Background |
involves: 129S7/SvEvBrd * C3H/He * C57BL/6 * ICR |
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lhx1tm1Bhr mutation
(2 available);
any
Lhx1 mutation
(22 available)
|
|
|
normal phenotype
|
|
• single heterozygotes from intercrosses with Ssbp3Tg(SOD1)1Hssk/+ mice appear normal at E9.0-9.5
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lhx1tm1Bhr mutation
(2 available);
any
Lhx1 mutation
(22 available)
Lhx1tm1Tmj mutation
(0 available);
any
Lhx1 mutation
(22 available)
|
|
|
renal/urinary system
|
|
• neonates lacked the metanephros
|
|
|
• neonates lacked the ureter
|
reproductive system
 |
• females lacked the reproductive tract but had normal ovaries
|
 |
• males lacked the reproductive tract but had normal testes
|
growth/size/body
|
|
• neonates lacked the anterior head
|
cardiovascular system
|
|
• by E9.5, mice exhibit cardiac defects including abnormal looping, expanded pericardium and cardia bifida compared with wild-type mice
|
embryo
|
|
• reduced anterior endoderm
|
|
|
• thickened distal tip with a local out-pocketing of cells on the surface of the distal tip
|
nervous system
cellular
|
|
• necrotic embryos by E10.5
|
growth/size/body
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lhx1tm1Bhr mutation
(2 available);
any
Lhx1 mutation
(22 available)
Ssbp3Tg(SOD1)1Hssk mutation
(0 available);
any
Ssbp3 mutation
(41 available)
|
|
|
growth/size/body
|
|
• some double heterozygotes display severe growth retardation and microcephaly
|
|
|
• double heterozygotes display variable degrees of microcephaly; some embryos appear normal, others display microcephaly while another subset show microcephaly and severe growth retardation
|
embryo
|
|
• the most severely affected double heterozygotes fail to undergo embryonic turning
|
|
|
• some double heterozygotes display severe growth retardation and microcephaly
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cer1tm1Bhr mutation
(0 available);
any
Cer1 mutation
(11 available)
Lhx1tm1Bhr mutation
(2 available);
any
Lhx1 mutation
(22 available)
|
|
|
normal phenotype
|
|
• the expected frequency of mutants are obtain and they appear phenotypically normal
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lhx1tm1Bhr mutation
(2 available);
any
Lhx1 mutation
(22 available)
Pgap1oto mutation
(0 available);
any
Pgap1 mutation
(53 available)
|
|
|
nervous system
|
|
• in severely affected mice, anterior central nervous system defects are more severe than in Pgap1oto homozygotes
|
|
|
• the anterior-ventral diencephalon is hypoplastic
|
|
|
• reduced in 75% mice at E9.5
|
Allelic
Composition |
Lhx1tm1Bhr/Lhx1+
Pgap1oto/Pgap1+
|
|
Genetic
Background |
involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J |
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lhx1tm1Bhr mutation
(2 available);
any
Lhx1 mutation
(22 available)
Pgap1oto mutation
(0 available);
any
Pgap1 mutation
(53 available)
|
|
|
nervous system
|
|
• reduced in 15% mice at E8.5 and E9.5
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lhx1tm1Bhr mutation
(2 available);
any
Lhx1 mutation
(22 available)
Pgap1oto mutation
(0 available);
any
Pgap1 mutation
(53 available)
|
|
|
embryo
|
|
• some mice lack a well-developed body axis
|
nervous system
|
|
• at E9 to E9.5, anterior truncations are more severe than in Lhx1tm1Bhr homozygotes
|
Analysis Tools