Phenotypes associated with this allele

• Allele Symbol: Pcbd1^tm1Grc
• Allele Name: targeted mutation 1, Gerald R Crabtree
• Allele ID: MGI:2384425
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pcbd1^tm1Grc/Pcbd1^tm1Grc	either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)	MGI:3722939

Genotype
MGI:3722939

hm1

• Allelic Composition: Pcbd1^tm1Grc/Pcbd1^tm1Grc
• Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

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

Pcbd1^tm1Grc/Pcbd1^tm1Grc mice develop cataracts

homeostasis/metabolism

increased circulating phenylalanine level ( J:78257 )

• hyperphenylalaninemia

• however, no evidence of maternal phenylketonuria

increased circulating insulin level ( J:78257 )

• insulin levels are somewhat elevated in fasted mutants and do not rise to the same degree as wild-type after glucose challenge

impaired glucose tolerance ( J:78257 )

• about half of the homozygotes exhibit mild glucose intolerance on the CD-1 background, while the mutants on the C57BL/6J background are more glucose-tolerant

ketoaciduria ( J:78257 )

• nonspecific ketonuria

vision/eye

cataract ( J:78257 )

• cataracts are usually unilateral and are detected as early as P12, but on average at about 24 weeks of age

• cataracts usually initiate in the posterior cortex of the lens displaying characteristic Morgagnian granules of degenerated lens fibers

• Background Sensitivity: 18.2% of mutants on the CD-1 background develop cataracts, while the incidence of cataract formation is reduced on the C57BL/6J background

microphthalmia ( J:78257 )

• predisposition to the development of slight microphthalmia

renal/urinary system

ketoaciduria ( J:78257 )

• nonspecific ketonuria

pigmentation

belly spot ( J:78257 )

• fewer than 10% exhibit an unpigmented belly spot when crossed onto the non-Agouti C57BL/6J background

hypopigmentation ( J:78257 )

• mutants frequently exhibit a mild hypopigmentation relative to wild-type when crossed onto the non-Agouti C57BL/6J background

integument

belly spot ( J:78257 )

• fewer than 10% exhibit an unpigmented belly spot when crossed onto the non-Agouti C57BL/6J background