All Phenotypes Frem1<tm1Ksek> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Frem1^tm1Ksek
targeted mutation 1, Kiyotoshi Sekiguchi
MGI:3665235

Summary

3 genotypes

Allelic Composition	Frem1^tm1Ksek/Frem1^tm1Ksek
Genetic Background	involves: 129

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Frem1^tm1Ksek mutation (1 available); any Frem1 mutation (117 available)

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

renal/urinary system

abnormal kidney development ( J:185210 )

• most mice exhibit renal dysmorphogenesis (10 of 13 mice unilateral renal agenesis and 2 of 13 unlilateral or bilateral renal dysgenesis at E15.5)

absent kidney ( J:185210 )

• unilaterally in 10 of 13 mice

Allelic Composition	Frem1^tm1Ksek/Frem1^tm1Ksek
Genetic Background	involves: 129 * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Frem1^tm1Ksek mutation (1 available); any Frem1 mutation (117 available)

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

Phenotypes and electron microscopy of Frem1^tm1Ksek/Frem1^tm1Ksek mice

limbs/digits/tail

syndactyly ( J:111788 )

vision/eye

cryptophthalmos ( J:111788 )

renal/urinary system

absent kidney ( J:111788 )

integument

blistering ( J:111788 )

• exhibit subepidermal blistering occurring between the lamina densa of the basement membrane and the underlying dermis at E14.5

skeleton

premature metopic suture closure ( J:177282 )

• mutants exhibit complete fusion of the posterior frontal suture at postnatal day 28 compared to day 45 in controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fraser syndrome		DOID:0090001	OMIM:PS219000	J:111788

Allelic Composition	Frem1^tm1Ksek/Frem1⁺
Genetic Background	involves: 129 * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Frem1^tm1Ksek mutation (1 available); any Frem1 mutation (117 available)

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

craniofacial

• mutants exhibit variable suture abnormalities similar to Frem1^bat heterozygotes

skeleton

• mutants exhibit variable suture abnormalities similar to Frem1^bat heterozygotes

Contributing Projects: 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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