Phenotypes associated with this allele

• Allele Symbol: Lgr5^tm1Ah
• Allele Name: targeted mutation 1, Aaron Hsueh
• Allele ID: MGI:3512420
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lgr5^tm1Ah/Lgr5^tm1Ah	involves: 129S5/SvEvBrd	MGI:3764665
hm2	Lgr5^tm1Ah/Lgr5^tm1Ah	involves: 129S5/SvEvBrd * C57BL/6	MGI:3512741

Genotype
MGI:3764665

hm1

• Allelic Composition: Lgr5^tm1Ah/Lgr5^tm1Ah
• Genetic Background: involves: 129S5/SvEvBrd

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

mortality/aging

neonatal lethality, complete penetrance ( J:127123 )

• phenotype is stated to be identical to that of Lgr5 ^tm1Ah homozygotes; however no data is presented in J:127123

behavior/neurological

abnormal suckling behavior ( J:127123 )

growth/size/body

abnormal tongue morphology ( J:127123 )

distended abdomen ( J:127123 )

homeostasis/metabolism

cyanosis ( J:127123 )

respiratory system

respiratory failure ( J:127123 )

digestive/alimentary system

abnormal tongue morphology ( J:127123 )

craniofacial

abnormal tongue morphology ( J:127123 )

Genotype
MGI:3512741

hm2

• Allelic Composition: Lgr5^tm1Ah/Lgr5^tm1Ah
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

mortality/aging

neonatal lethality, complete penetrance ( J:94196 )

• died within 24 hours after birth with empty stomachs filled with air

behavior/neurological

absent gastric milk in neonates ( J:94196 )

abnormal suckling behavior ( J:94196 )

• stomachs were empty and filled with air presumably due to a suckling defect

growth/size/body

tongue ankylosis ( J:94196 )

• tongue was fused along the entire ventral surface to the floor of the oral cavity and was attached to the mandible

distended abdomen ( J:94196 )

• gradual distension of the abdomen after birth, so that by 12 hours after birth, the entire gastrointestinal tract became distended

homeostasis/metabolism

cyanosis ( J:94196 )

• mutants became gradually cyanotic with gasping respirations

respiratory system

respiratory failure ( J:94196 )

• pressure against the diaphragm from the distended abdomen resulted in respiratory failure

digestive/alimentary system

tongue ankylosis ( J:94196 )

• tongue was fused along the entire ventral surface to the floor of the oral cavity and was attached to the mandible

craniofacial

tongue ankylosis ( J:94196 )

• tongue was fused along the entire ventral surface to the floor of the oral cavity and was attached to the mandible

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ankyloglossia		DOID:0060604	OMIM:106280	J:94196