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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Lhx4tm1Ssp
targeted mutation 1, S Steven Potter
MGI:2385815
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Lhx4tm1Ssp/Lhx4tm1Ssp involves: 129S2/SvPas * CF-1 MGI:3513432
cx2
 		Lhx3tm1Lmgd/Lhx3tm1Lmgd
Lhx4tm1Ssp/Lhx4tm1Ssp 		involves: 129S2/SvPas * 129S4/SvJae * CF-1 MGI:3513431
cx3
 		Lhx4tm1Ssp/Lhx4tm1Ssp
Prop1df/Prop1df 		involves: 129S2/SvPas * C57BL/6 * CF-1 * Goodale large mice * pink-eyed stock MGI:3582582


Genotype
MGI:3513432
hm1
Allelic
Composition		 Lhx4tm1Ssp/Lhx4tm1Ssp
Genetic
Background		 involves: 129S2/SvPas * CF-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lhx4tm1Ssp mutation (1 available); any Lhx4 mutation (25 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
perinatal lethality, complete penetrance ( J:19373 )
• homozygotes are present at E18 but die within the first 15 minutes after birth

endocrine/exocrine glands
abnormal Rathke's pouch development ( J:79850 )
• Rathke's pouch is smaller than normal at E12.5 with no evidence of anterior lobe formation
• sometimes a smaller ventral pouch forms
small Rathke's pouch ( J:79850 )
• at E12.5
decreased gonadotroph cell number ( J:79850 )
• gonadotrope cells rarely detected
small adenohypophysis ( J:79850 )
• anterior lobes of pituitary are still very small at E14.5

respiratory system
abnormal lung morphology ( J:19373 )
• more glycogen storage than normal in the lungs
• pulmonary immaturity
decreased alveolar lamellar body number ( J:19373 , J:79850 )
• type II cells in the respiratory epithelium with fewer lamellar bodies (surfactant storage) (J:19373)
• type II pneumocytes have display less lamellar bodies containing surfactant (J:79850)
primary atelectasis ( J:19373 )
• lungs fail to inflate at birth but could be inflated by positive airway pressure
• treatment with a combination of dexamethasone and progesterone resulted in mice able to inflate lungs but death still occurred by 45 minutes after birth

nervous system
nervous system phenotype ( J:51420 )
N
• motor neuron development is normal
abnormal Rathke's pouch development ( J:79850 )
• Rathke's pouch is smaller than normal at E12.5 with no evidence of anterior lobe formation
• sometimes a smaller ventral pouch forms
small Rathke's pouch ( J:79850 )
• at E12.5
decreased gonadotroph cell number ( J:79850 )
• gonadotrope cells rarely detected
small adenohypophysis ( J:79850 )
• anterior lobes of pituitary are still very small at E14.5

homeostasis/metabolism
abnormal blood gas level ( J:19373 )
• hemoglobin oxygen saturation is very low




Genotype
MGI:3513431
cx2
Allelic
Composition		 Lhx3tm1Lmgd/Lhx3tm1Lmgd
Lhx4tm1Ssp/Lhx4tm1Ssp
Genetic
Background		 involves: 129S2/SvPas * 129S4/SvJae * CF-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lhx3tm1Lmgd mutation (1 available); any Lhx3 mutation (26 available)
Lhx4tm1Ssp mutation (1 available); any Lhx4 mutation (25 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
perinatal lethality, complete penetrance ( J:51420 )
• double mutants die at birth

nervous system
abnormal motor neuron morphology ( J:51420 )
• double mutants lack multiple types of medial motor column motor neurons and the ventral horn of the spinal cord is almost devoid of Isl1+ motor neurons
• ventral motor neurons fail to differentiate
abnormal abducens nerve morphology ( J:51420 )
• no abducens motor neurons are detected
abnormal hypoglossal nerve morphology ( J:51420 )
• no hypoglossal motor neurons are detected
abnormal spinal nerve morphology ( J:51420 )
• the dorsal spinal accessory fascicle is enlarged




Genotype
MGI:3582582
cx3
Allelic
Composition		 Lhx4tm1Ssp/Lhx4tm1Ssp
Prop1df/Prop1df
Genetic
Background		 involves: 129S2/SvPas * C57BL/6 * CF-1 * Goodale large mice * pink-eyed stock
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lhx4tm1Ssp mutation (1 available); any Lhx4 mutation (25 available)
Prop1df mutation (2 available); any Prop1 mutation (15 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
endocrine/exocrine glands
abnormal Rathke's pouch apoptosis ( J:79850 )
• in pituitary primordia
abnormal Rathke's pouch development ( J:79850 )
• Rathke's pouch is smaller than normal at E12.5
• sometimes a smaller ventral pouch forms
absent gonadotrophs ( J:79850 )
• gonadotrope cells absent
absent adenohypophysis ( J:79850 )
• anterior lobes of pituitary never form

homeostasis/metabolism
decreased pituitary hormone level ( J:79850 )
• pro-opiomelanocortin in the pituitary detectable at birth but only in scattered intermediate lobe cells
decreased growth hormone level ( J:79850 )
• lacking in pituitary

nervous system
abnormal Rathke's pouch apoptosis ( J:79850 )
• in pituitary primordia
abnormal Rathke's pouch development ( J:79850 )
• Rathke's pouch is smaller than normal at E12.5
• sometimes a smaller ventral pouch forms
absent gonadotrophs ( J:79850 )
• gonadotrope cells absent
absent adenohypophysis ( J:79850 )
• anterior lobes of pituitary never form




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory