Phenotypes associated with this allele

• Allele Symbol: Nherf1^tm1Ssl
• Allele Name: targeted mutation 1, Shirish Shenolikar
• Allele ID: MGI:2386785
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nherf1^tm1Ssl/Nherf1^tm1Ssl	FVB.129-Nherf1^tm1Ssl	MGI:3769360
hm2	Nherf1^tm1Ssl/Nherf1^tm1Ssl	involves: 129X1/SvJ	MGI:3032975
hm3	Nherf1^tm1Ssl/Nherf1^tm1Ssl	involves: 129X1/SvJ * C57BL/6	MGI:3032976
cx4	Cftr^tm1Eur/Cftr^tm1Eur Nherf1^tm1Ssl/Nherf1^tm1Ssl	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ	MGI:3769361
cx5	Nherf1^tm1Ssl/Nherf1^tm1Ssl Nherf2^Gt(OST2298)Lex/Nherf2^Gt(OST2298)Lex	involves: 129S1/Sv * 129S5/SvEvBrd * 129X1/SvJ * FVB/N	MGI:3769359

Genotype
MGI:3769360

hm1

• Allelic Composition: Nherf1^tm1Ssl/Nherf1^tm1Ssl
• Genetic Background: FVB.129-Nherf1^tm1Ssl

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

reproductive system

reproductive system phenotype ( J:128912 )

N • contrary to previous reports mice do not exhibit any decreased fertility

homeostasis/metabolism

abnormal physiological response to xenobiotic ( J:128912 )

• when activated with forskolin, cAMP- and cGMP-activated CFTR transepithelial short circuit currents are decrease 34% compared to wild-type mice

• when activated with 8-Br-cGMP, cAMP- and cGMP-activated CFTR transepithelial short circuit currents are decrease 31% compared to wild-type mice

• when activated with forskolin or 8-Br-cGMP, bicarbonate secretion from the duodenum are decreased 35% and 30%, respectively, compared to in wild-type mcie

Genotype
MGI:3032975

hm2

• Allelic Composition: Nherf1^tm1Ssl/Nherf1^tm1Ssl
• Genetic Background: involves: 129X1/SvJ

reproductive system

reduced fertility ( J:78606 )

decreased litter size ( J:78606 )

Genotype
MGI:3032976

hm3

• Allelic Composition: Nherf1^tm1Ssl/Nherf1^tm1Ssl
• Genetic Background: involves: 129X1/SvJ * C57BL/6

mortality/aging

premature death ( J:78606 )

• surviving females died 30 to 35 days after birth, often exhibiting bone fractures

prenatal lethality, incomplete penetrance ( J:78606 )

• homozygous females were not obtained in generations F1 to F3, but were obtained in generations F4 to F6

behavior/neurological

abnormal locomotor behavior ( J:78606 )

• female mice exhibited impaired mobility consistent with muscle weakness

homeostasis/metabolism

increased urine phosphate level ( J:78606 )

renal/urinary system

increased urine phosphate level ( J:78606 )

reproductive system

decreased litter size ( J:78606 )

• crosses involving homozygous females yielded small litters

skeleton

decreased bone mineral content ( J:78606 )

• mineral content reduced 40%

decreased bone mineral density ( J:78606 )

• bone mineral density reduced 25% to 30%

nervous system

hydrocephaly ( J:78606 )

• observed in some female mice

Genotype
MGI:3769361

cx4

• Allelic Composition: Cftr^tm1Eur/Cftr^tm1Eur; Nherf1^tm1Ssl/Nherf1^tm1Ssl
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

homeostasis/metabolism

abnormal physiological response to xenobiotic ( J:128912 )

• when activated with forskolin or 8-Br-cGMP, cAMP- and cGMP-activated CFTR transepithelial short circuit currents are completely abolished

Genotype
MGI:3769359

cx5

• Allelic Composition: Nherf1^tm1Ssl/Nherf1^tm1Ssl; Nherf2^{Gt(OST2298)Lex}/Nherf2^{Gt(OST2298)Lex}
• Genetic Background: involves: 129S1/Sv * 129S5/SvEvBrd * 129X1/SvJ * FVB/N

homeostasis/metabolism

abnormal response/metabolism to endogenous compounds ( J:128912 )

• when activated with glucose, cAMP- and cGMP-activated CFTR transepithelial short circuit currents are increased 25% compared to wild-type mice

abnormal physiological response to xenobiotic ( J:128912 )

• when activated with forskolin, cAMP- and cGMP-activated CFTR transepithelial short circuit currents are decrease 37% compared to wild-type mice

• when activated with 8-Br-cGMP, cAMP- and cGMP-activated CFTR transepithelial short circuit currents are decrease 34% compared to wild-type mice