Phenotypes associated with this allele

• Allele Symbol: Lztr1^{tm1a(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4432946
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lztr1^tm1a(EUCOMM)Wtsi/Lztr1^tm1a(EUCOMM)Wtsi	C57BL/6N-Lztr1^tm1a(EUCOMM)Wtsi/Wtsi	MGI:5631286
hm2	Lztr1^tm1a(EUCOMM)Wtsi/Lztr1^tm1a(EUCOMM)Wtsi	involves: C57BL/6N	MGI:6315870
ht3	Lztr1^tm1a(EUCOMM)Wtsi/Lztr1^+	C57BL/6N-Lztr1^tm1a(EUCOMM)Wtsi/Wtsi	MGI:5706035
ht4	Lztr1^tm1a(EUCOMM)Wtsi/Lztr1^+	involves: C57BL/6N	MGI:6315869

Genotype
MGI:5631286

hm1

• Allelic Composition: Lztr1^{tm1a(EUCOMM)Wtsi}/Lztr1^{tm1a(EUCOMM)Wtsi}
• Genetic Background: C57BL/6N-Lztr1^{tm1a(EUCOMM)Wtsi}/Wtsi
• Cell Lines: EPD0140_5_E07

Data Sources

IMPC Data for Lztr1

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

mortality/aging

preweaning lethality, complete penetrance ( J:211773 )

IMPC - WTSI

Genotype
MGI:6315870

hm2

• Allelic Composition: Lztr1^{tm1a(EUCOMM)Wtsi}/Lztr1^{tm1a(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6N

mortality/aging

lethality during fetal growth through weaning ( J:268690 )

• lethal between E17.5 and birth

• pimasertib treatment rescues the lethality of homozygous mice

Genotype
MGI:5706035

ht3

• Allelic Composition: Lztr1^{tm1a(EUCOMM)Wtsi}/Lztr1⁺
• Genetic Background: C57BL/6N-Lztr1^{tm1a(EUCOMM)Wtsi}/Wtsi
• Cell Lines: EPD0140_5_E07

Data Sources

IMPC Data for Lztr1

craniofacial

abnormal cranium morphology ( J:211773 )

IMPC - WTSI

abnormal snout morphology ( J:211773 )

IMPC - WTSI

growth/size/body

abnormal snout morphology ( J:211773 )

IMPC - WTSI

hematopoietic system

increased red blood cell distribution width ( J:211773 )

♂

IMPC - WTSI

skeleton

abnormal cranium morphology ( J:211773 )

IMPC - WTSI

Genotype
MGI:6315869

ht4

• Allelic Composition: Lztr1^{tm1a(EUCOMM)Wtsi}/Lztr1⁺
• Genetic Background: involves: C57BL/6N

mortality/aging

premature death ( J:268690 )

• mice exhibit reduced longevity, with reduced survival beginning around 20 weeks of age

growth/size/body

cardiac hypertrophy ( J:268690 )

• eccentric hypertrophy

abnormal facial morphology ( J:268690 )

♂ • males exhibit facial dysmorphia

broad nasal bone ( J:268690 )

• increase in nasal bone width

decreased body weight ( J:268690 )

♂ • males exhibit decreased weight

craniofacial

decreased cranium height ( J:268690 )

♂ • shorter skull length in males

increased cranium width ( J:268690 )

• increase in skull width

short parietal bone ( J:268690 )

• decrease in parietal bone length

abnormal facial morphology ( J:268690 )

♂ • males exhibit facial dysmorphia

broad nasal bone ( J:268690 )

• increase in nasal bone width

cardiovascular system

increased myocardial fiber size ( J:268690 )

• increase in cardiomyocyte area

cardiac hypertrophy ( J:268690 )

• eccentric hypertrophy

increased cardiac stroke volume ( J:268690 )

♀ • increase in stroke volume in females

decreased cardiac muscle contractility ( J:268690 )

♂ • decrease in % ejection fraction and fractional shortening in males

abnormal heart echocardiography feature ( J:268690 )

• echocardiography indicates decreased left ventricular systolic function and increased diastolic dimensions

cellular

increased cell proliferation ( J:268690 )

• MEFs exhibit increased growth rate

muscle

increased myocardial fiber size ( J:268690 )

• increase in cardiomyocyte area

decreased cardiac muscle contractility ( J:268690 )

♂ • decrease in % ejection fraction and fractional shortening in males

skeleton

decreased cranium height ( J:268690 )

♂ • shorter skull length in males

increased cranium width ( J:268690 )

• increase in skull width

short parietal bone ( J:268690 )

• decrease in parietal bone length

broad nasal bone ( J:268690 )

• increase in nasal bone width

respiratory system

broad nasal bone ( J:268690 )

• increase in nasal bone width

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Noonan syndrome 10		DOID:0060588	OMIM:616564	J:268690