Phenotypes associated with this allele

• Allele Symbol: F2rl1^tm1Cgh
• Allele Name: targeted mutation 1, Shaun R Coughlin
• Allele ID: MGI:2179844
• Summary: 10 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	F2rl1^tm1Cgh/F2rl1^tm1Cgh	B6.129S4-F2rl1^tm1Cgh	MGI:3784877
hm2	F2rl1^tm1Cgh/F2rl1^tm1Cgh	involves: 129S4/SvJae	MGI:3784844
hm3	F2rl1^tm1Cgh/F2rl1^tm1Cgh	involves: 129S4/SvJae * C57BL/6	MGI:3784839
cx4	F2rl1^tm1Cgh/F2rl1^tm1Cgh Spink5^tm1Hov/Spink5^tm1Hov	involves: 129P2/OlaHsd * 129S4/SvJae	MGI:5311110
cx5	F2rl1^tm1Cgh/F2rl1^tm1Cgh Spint2^Gt(KST272)Byg/Spint2^Gt(KST272)Byg	involves: 129P2/OlaHsd * 129S4/SvJae	MGI:5440266
cx6	F2rl1^tm1Cgh/F2rl1^tm1Cgh Spint2^Gt(KST272)Byg/Spint2^Gt(KST272)Byg St14^tm1Bug/St14^+	involves: 129P2/OlaHsd * 129S4/SvJae	MGI:5440267
cx7	F2r^tm1Ajc/F2r^tm1Ajc F2rl1^tm1Cgh/F2rl1^tm1Cgh	involves: 129S4/SvJae	MGI:5440277
cx8	F2r^tm1Ajc/F2r^tm1Ajc F2rl1^tm1Cgh/F2rl1^tm1Cgh	involves: 129S4/SvJae * C57BL/6	MGI:3784874
cx9	F2r^tm1Ajc/F2r^tm1Ajc F2rl1^tm1Cgh/F2rl1^tm1Cgh F2rl3^tm1Cgh/F2rl3^tm1Cgh	involves: 129S4/SvJae * C57BL/6	MGI:3784875
cx10	F2rl1^tm1Cgh/F2rl1^tm1Cgh Tg(KRT14-Prss8)2Hum/?	involves: 129S4/SvJae * C57BL/6 * DBA/2	MGI:5444869

Genotype
MGI:3784877

hm1

• Allelic Composition: F2rl1^tm1Cgh/F2rl1^tm1Cgh
• Genetic Background: B6.129S4-F2rl1^tm1Cgh

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

immune system

decreased dendritic cell number ( J:113591 )

• mice fail to develop bone marrow-derived dendritic cells with to without soy bean trypsin inhibitor treatment unlike wild-type mice

• however, stimulation with TNG-alpha or by crosslinking CD40 results in mature dendritic cell development

hematopoietic system

decreased dendritic cell number ( J:113591 )

• mice fail to develop bone marrow-derived dendritic cells with to without soy bean trypsin inhibitor treatment unlike wild-type mice

• however, stimulation with TNG-alpha or by crosslinking CD40 results in mature dendritic cell development

Genotype
MGI:3784844

hm2

• Allelic Composition: F2rl1^tm1Cgh/F2rl1^tm1Cgh
• Genetic Background: involves: 129S4/SvJae

integument

abnormal skin physiology ( J:111734 , J:130935 )

• mice exhibit faster recovery of the epidermal barrier compared to wild-type mice after acute barrier abrogation by tape stripping (J:111734)

• unlike in wild-type mice, lamellar body secretion is enhanced prior to and following barrier abrogation (J:111734)

• mice fail to exhibit apoptosis in stratum granulosum cells following tape stripping (J:130935)

Genotype
MGI:3784839

hm3

• Allelic Composition: F2rl1^tm1Cgh/F2rl1^tm1Cgh
• Genetic Background: involves: 129S4/SvJae * C57BL/6

immune system

immune system phenotype ( J:132733 )

N • mice exhibit a normal response to endotoxin treatment

impaired leukocyte tethering or rolling ( J:76626 )

• following surgical trauma, mean leukocyte rolling flux fraction at 0 to 15 minutes is lower than in wild-type leukocytes and persists through 16 to 30 minutes but not after 30 minutes when mice exhibit an increase in the flux fraction

• following surgical trauma, rolling velocity at 0 to 15 minutes is increased compared to in wild-type leukocytes then decreases to normal after 15 minutes

glomerulonephritis ( J:124303 )

• mice exhibit a resistance to antibody-induced crescentic glomerulonephritis with reduced crescent formation, protenuria, glomerular fibrin deposition, and serum creatinine compared to wild-type mice 21 days after induction

• however, following induction of crescentic glomerulonephritis, nephritogenic antiboe production, NO generation, inflammatory response and glomerular cell proliferation are normal

liver/biliary system

abnormal gallbladder physiology ( J:123689 )

• the gallbladder fails to exhibit a normal short-circuit current response when stimulated with TFLLRN-NH2 and thrombin

• however, the short-circuit response to SLIGRL-NH2 and trypsin is normal

homeostasis/metabolism

abnormal glucose homeostasis ( J:130781 )

• treatment with SLIGRL leads to a 20% drop in plasma insulin levels compared to greater than 50% drop in wild-type mice and plasma glucose levels fail to increase unlike in similarly treated wild-type mice

improved glucose tolerance ( J:130781 )

decreased susceptibility to injury ( J:124303 )

• mice exhibit a resistance to antibody-induced crescentic glomerulonephritis with reduced crescent formation, protenuria, glomerular fibrin deposition, and serum creatinine compared to wild-type mice 21 days after induction

• however, following induction of crescentic glomerulonephritis, nephritogenic antiboe production, NO generation, inflammatory response and glomerular cell proliferation are normal

renal/urinary system

glomerulonephritis ( J:124303 )

• mice exhibit a resistance to antibody-induced crescentic glomerulonephritis with reduced crescent formation, protenuria, glomerular fibrin deposition, and serum creatinine compared to wild-type mice 21 days after induction

• however, following induction of crescentic glomerulonephritis, nephritogenic antiboe production, NO generation, inflammatory response and glomerular cell proliferation are normal

cellular

impaired leukocyte tethering or rolling ( J:76626 )

• following surgical trauma, mean leukocyte rolling flux fraction at 0 to 15 minutes is lower than in wild-type leukocytes and persists through 16 to 30 minutes but not after 30 minutes when mice exhibit an increase in the flux fraction

• following surgical trauma, rolling velocity at 0 to 15 minutes is increased compared to in wild-type leukocytes then decreases to normal after 15 minutes

hematopoietic system

impaired leukocyte tethering or rolling ( J:76626 )

• following surgical trauma, mean leukocyte rolling flux fraction at 0 to 15 minutes is lower than in wild-type leukocytes and persists through 16 to 30 minutes but not after 30 minutes when mice exhibit an increase in the flux fraction

• following surgical trauma, rolling velocity at 0 to 15 minutes is increased compared to in wild-type leukocytes then decreases to normal after 15 minutes

Genotype
MGI:5311110

cx4

• Allelic Composition: F2rl1^tm1Cgh/F2rl1^tm1Cgh; Spink5^tm1Hov/Spink5^tm1Hov
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae

mortality/aging

neonatal lethality, complete penetrance ( J:180855 )

• mutants exhibit rapid lethality after birth due to severe dehydration

integument

abnormal vibrissa morphology ( J:180855 )

• mutants exhibit vibrissae abnormalities

abnormal skin morphology ( J:180855 )

• mutants exhibit skin erosions

• double mutant skin grafted onto athymic immunodeficient nude mice appears erythematous, scaly, and has no hair, shows acanthosis with papillomatosis, hyperkeratosis, and parakeratosis and an increase in mast cells and polynuclear eosinophilic cells

abnormal epidermis stratum corneum morphology ( J:180855 )

• stratum corneum detachment

acanthosis ( J:180855 )

• moderate acanthosis

homeostasis/metabolism

dehydration ( J:180855 )

• mutants exhibit rapid lethality after birth due to severe dehydration

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Netherton syndrome		DOID:0050474	OMIM:256500	J:180855

Genotype
MGI:5440266

cx5

• Allelic Composition: F2rl1^tm1Cgh/F2rl1^tm1Cgh; Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg}
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae

mortality/aging

embryonic lethality, complete penetrance ( J:188121 )

Genotype
MGI:5440267

cx6

• Allelic Composition: F2rl1^tm1Cgh/F2rl1^tm1Cgh; Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg}; St14^tm1Bug/St14⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae

nervous system

exencephaly ( J:188121 )

• in all mice

• penetrance is identical to mutant mice wild-type for at least one F2rl1 allele

Genotype
MGI:5440277

cx7

• Allelic Composition: F2r^tm1Ajc/F2r^tm1Ajc; F2rl1^tm1Cgh/F2rl1^tm1Cgh
• Genetic Background: involves: 129S4/SvJae

embryo

abnormal neural tube morphology ( J:188121 )

• neural tube defects are largely confined to the hindbrain region with only 5% showing involvement of the midbrain and none showing forebrain involvement

• defects generally only become obvious after E10.5

spina bifida ( J:188121 )

• occasional

nervous system

abnormal neural tube morphology ( J:188121 )

• neural tube defects are largely confined to the hindbrain region with only 5% showing involvement of the midbrain and none showing forebrain involvement

• defects generally only become obvious after E10.5

spina bifida ( J:188121 )

• occasional

limbs/digits/tail

curly tail ( J:188121 )

• occasional

Genotype
MGI:3784874

cx8

• Allelic Composition: F2r^tm1Ajc/F2r^tm1Ajc; F2rl1^tm1Cgh/F2rl1^tm1Cgh
• Genetic Background: involves: 129S4/SvJae * C57BL/6

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:132733 )

• female mice exhibit a decreased survival following exposure to endotoxin compared to wild-type mice

decreased survivor rate ( J:132733 )

• only 5 % of expected mice are born and survive into adulthood to reproduce

embryonic lethality, incomplete penetrance ( J:132733 )

• only 5% of expected mice were born

• however, surviving mice survive into adulthood

immune system

increased susceptibility to endotoxin shock ( J:132733 )

• female mice exhibit a decreased survival following exposure to endotoxin compared to wild-type mice and produce more cytokines at low doses of endotoxin

Genotype
MGI:3784875

cx9

• Allelic Composition: F2r^tm1Ajc/F2r^tm1Ajc; F2rl1^tm1Cgh/F2rl1^tm1Cgh; F2rl3^tm1Cgh/F2rl3^tm1Cgh
• Genetic Background: involves: 129S4/SvJae * C57BL/6

mortality/aging

embryonic lethality ( J:132733 )

Genotype
MGI:5444869

cx10

• Allelic Composition: F2rl1^tm1Cgh/F2rl1^tm1Cgh; Tg(KRT14-Prss8)2Hum/?
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * DBA/2

integument

integument phenotype ( J:189278 )

N • absence of F2rl1 completely rescued hyperplasia, barrier dysfunction, inflammation and ichthyosis